Canonical Allele Identifier: CA275372
Community Standard Title: NM_004006.3(DMD):c.9978C>G (p.Tyr3326Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31180478G>C , CM000685.2:g.31180478G>C GRCh38
NC_000023.10:g.31198595G>C , CM000685.1:g.31198595G>C GRCh37
NC_000023.9:g.31108516G>C NCBI36
NG_012232.1:g.2164132C>G , LRG_199:g.2164132C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9978C>G MANE Select NP_003997.2:p.Tyr3326Ter
ENST00000357033.9:c.9978C>G MANE Select ENSP00000354923.3:p.Tyr3326Ter
NM_000109.3:c.9954C>G NP_000100.2:p.Tyr3318Ter
NM_000109.4:c.9954C>G NP_000100.3:p.Tyr3318Ter
NM_004006.2:c.9978C>G , LRG_199t1:c.9978C>G NP_003997.1:p.Tyr3326Ter
NM_004009.3:c.9966C>G NP_004000.1:p.Tyr3322Ter
NM_004010.3:c.9609C>G NP_004001.1:p.Tyr3203Ter
NM_004011.3:c.5955C>G NP_004002.2:p.Tyr1985Ter
NM_004011.4:c.5955C>G NP_004002.3:p.Tyr1985Ter
NM_004012.3:c.5946C>G NP_004003.1:p.Tyr1982Ter
NM_004012.4:c.5946C>G NP_004003.2:p.Tyr1982Ter
NM_004013.2:c.2598C>G NP_004004.1:p.Tyr866Ter
NM_004013.3:c.2598C>G NP_004004.2:p.Tyr866Ter
NM_004014.2:c.1791C>G NP_004005.1:p.Tyr597Ter
NM_004014.3:c.1791C>G NP_004005.2:p.Tyr597Ter
NM_004015.2:c.774C>G NP_004006.1:p.Tyr258Ter
NM_004015.3:c.774C>G NP_004006.1:p.Tyr258Ter
NM_004016.2:c.774C>G NP_004007.1:p.Tyr258Ter
NM_004016.3:c.774C>G NP_004007.1:p.Tyr258Ter
NM_004017.2:c.774C>G NP_004008.1:p.Tyr258Ter
NM_004017.3:c.774C>G NP_004008.1:p.Tyr258Ter
NM_004018.2:c.774C>G NP_004009.1:p.Tyr258Ter
NM_004018.3:c.774C>G NP_004009.1:p.Tyr258Ter
NM_004019.2:c.774C>G NP_004010.1:p.Tyr258Ter
NM_004019.3:c.774C>G NP_004010.1:p.Tyr258Ter
NM_004020.3:c.2598C>G NP_004011.2:p.Tyr866Ter
NM_004020.4:c.2598C>G NP_004011.3:p.Tyr866Ter
NM_004021.2:c.2598C>G NP_004012.1:p.Tyr866Ter
NM_004021.3:c.2598C>G NP_004012.2:p.Tyr866Ter
NM_004022.2:c.2598C>G NP_004013.1:p.Tyr866Ter
NM_004022.3:c.2598C>G NP_004013.2:p.Tyr866Ter
NM_004023.2:c.2598C>G NP_004014.1:p.Tyr866Ter
NM_004023.3:c.2598C>G NP_004014.2:p.Tyr866Ter
ENST00000343523.6:c.1791C>G ENSP00000340057.3:p.Tyr597Ter
ENST00000343523.7:c.1833C>G ENSP00000340057.4:p.Tyr611Ter
ENST00000357033.8:c.9978C>G ENSP00000354923.3:p.Tyr3326Ter
ENST00000358062.6:c.3066C>G ENSP00000350765.2:p.Tyr1022Ter
ENST00000358062.7:c.4824C>G ENSP00000350765.3:p.Tyr1608Ter
ENST00000359836.5:c.2598C>G ENSP00000352894.1:p.Tyr866Ter
ENST00000361471.8:c.774C>G ENSP00000354464.4:p.Tyr258Ter
ENST00000378677.6:c.9966C>G ENSP00000367948.2:p.Tyr3322Ter
ENST00000378680.6:c.774C>G ENSP00000367951.2:p.Tyr258Ter
ENST00000378702.8:c.774C>G ENSP00000367974.4:p.Tyr258Ter
ENST00000378705.3:c.348C>G ENSP00000367977.3:p.Tyr116Ter
ENST00000378707.7:c.2598C>G ENSP00000367979.3:p.Tyr866Ter
ENST00000378723.7:c.774C>G ENSP00000367997.3:p.Tyr258Ter
ENST00000474231.5:c.2598C>G ENSP00000417123.1:p.Tyr866Ter
ENST00000475732.1:n.194C>G
ENST00000475732.2:n.344C>G
ENST00000475732.3:n.2325C>G
ENST00000541735.5:c.2598C>G ENSP00000444119.1:p.Tyr866Ter
ENST00000619831.4:c.9963C>G ENSP00000479270.1:p.Tyr3321Ter
ENST00000619831.5:c.5946C>G ENSP00000479270.2:p.Tyr1982Ter
ENST00000620040.4:c.9975C>G ENSP00000478150.1:p.Tyr3325Ter
ENST00000620040.5:c.2598C>G ENSP00000478150.2:p.Tyr866Ter
ENST00000679641.1:c.607C>G ENSP00000506135.1:p.Gln203Glu
ENST00000680162.1:c.651C>G ENSP00000506634.1:p.Tyr217Ter
ENST00000680162.2:c.774C>G ENSP00000506634.2:p.Tyr258Ter
ENST00000680355.1:c.774C>G ENSP00000506257.1:p.Tyr258Ter
ENST00000680557.1:c.603+23483C>G ENSP00000505164.1:n.603+23483C>G
ENST00000680768.1:c.717C>G ENSP00000506359.1:p.Tyr239Ter
ENST00000680768.2:c.774C>G ENSP00000506359.2:p.Tyr258Ter
ENST00000680961.1:c.2431C>G ENSP00000506386.1:p.Gln811Glu
ENST00000681153.1:c.774C>G ENSP00000505124.1:p.Tyr258Ter
ENST00000681654.1:n.908C>G
ENST00000681989.1:n.776C>G
ENST00000682238.1:c.2598C>G ENSP00000508124.1:p.Tyr866Ter
ENST00000682322.1:c.774C>G ENSP00000507690.1:p.Tyr258Ter
ENST00000682600.1:c.774C>G ENSP00000507640.1:p.Tyr258Ter
ENST00000682769.1:n.609C>G
ENST00000683509.1:n.1495C>G
ENST00000683675.1:n.1077C>G
ENST00000683709.1:n.1496C>G
ENST00000683957.1:n.3470C>G
ENST00000684130.1:c.2598C>G ENSP00000508037.1:p.Tyr866Ter
XM_006724468.2:c.9978C>G XP_006724531.1:p.Tyr3326Ter
XM_006724469.2:c.9954C>G XP_006724532.1:p.Tyr3318Ter
XM_006724469.3:c.9954C>G XP_006724532.1:p.Tyr3318Ter
XM_006724470.2:c.9978C>G XP_006724533.1:p.Tyr3326Ter
XM_006724470.3:c.9978C>G XP_006724533.1:p.Tyr3326Ter
XM_006724471.2:c.9978C>G XP_006724534.1:p.Tyr3326Ter
XM_006724472.2:c.9849C>G XP_006724535.1:p.Tyr3283Ter
XM_006724473.2:c.9840C>G XP_006724536.1:p.Tyr3280Ter
XM_006724474.2:c.9978C>G XP_006724537.1:p.Tyr3326Ter
XM_006724474.3:c.9978C>G XP_006724537.1:p.Tyr3326Ter
XM_006724475.2:c.9978C>G XP_006724538.1:p.Tyr3326Ter
XM_011545467.1:c.9855C>G XP_011543769.1:p.Tyr3285Ter
XM_017029328.1:c.9978C>G XP_016884817.1:p.Tyr3326Ter
XM_017029331.1:c.4152C>G XP_016884820.1:p.Tyr1384Ter