Canonical Allele Identifier: CA412653801
Community Standard Title: NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31348625C>A , CM000685.2:g.31348625C>A GRCh38
NC_000023.10:g.31366742C>A , CM000685.1:g.31366742C>A GRCh37
NC_000023.9:g.31276663C>A NCBI36
NG_012232.1:g.1995985G>T , LRG_199:g.1995985G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9094G>T MANE Select NP_003997.2:p.Glu3032Ter
ENST00000357033.9:c.9094G>T MANE Select ENSP00000354923.3:p.Glu3032Ter
NM_000109.3:c.9070G>T NP_000100.2:p.Glu3024Ter
NM_000109.4:c.9070G>T NP_000100.3:p.Glu3024Ter
NM_004006.2:c.9094G>T , LRG_199t1:c.9094G>T NP_003997.1:p.Glu3032Ter
NM_004009.3:c.9082G>T NP_004000.1:p.Glu3028Ter
NM_004010.3:c.8725G>T NP_004001.1:p.Glu2909Ter
NM_004011.3:c.5071G>T NP_004002.2:p.Glu1691Ter
NM_004011.4:c.5071G>T NP_004002.3:p.Glu1691Ter
NM_004012.3:c.5062G>T NP_004003.1:p.Glu1688Ter
NM_004012.4:c.5062G>T NP_004003.2:p.Glu1688Ter
NM_004013.2:c.1714G>T NP_004004.1:p.Glu572Ter
NM_004013.3:c.1714G>T NP_004004.2:p.Glu572Ter
NM_004014.2:c.907G>T NP_004005.1:p.Glu303Ter
NM_004014.3:c.907G>T NP_004005.2:p.Glu303Ter
NM_004020.3:c.1714G>T NP_004011.2:p.Glu572Ter
NM_004020.4:c.1714G>T NP_004011.3:p.Glu572Ter
NM_004021.2:c.1714G>T NP_004012.1:p.Glu572Ter
NM_004021.3:c.1714G>T NP_004012.2:p.Glu572Ter
NM_004022.2:c.1714G>T NP_004013.1:p.Glu572Ter
NM_004022.3:c.1714G>T NP_004013.2:p.Glu572Ter
NM_004023.2:c.1714G>T NP_004014.1:p.Glu572Ter
NM_004023.3:c.1714G>T NP_004014.2:p.Glu572Ter
ENST00000343523.6:c.907G>T ENSP00000340057.3:p.Glu303Ter
ENST00000343523.7:c.949G>T ENSP00000340057.4:p.Glu317Ter
ENST00000357033.8:c.9094G>T ENSP00000354923.3:p.Glu3032Ter
ENST00000358062.6:c.2182G>T ENSP00000350765.2:p.Glu728Ter
ENST00000358062.7:c.3940G>T ENSP00000350765.3:p.Glu1314Ter
ENST00000359836.5:c.1714G>T ENSP00000352894.1:p.Glu572Ter
ENST00000378677.6:c.9082G>T ENSP00000367948.2:p.Glu3028Ter
ENST00000378707.7:c.1714G>T ENSP00000367979.3:p.Glu572Ter
ENST00000469142.1:n.113G>T
ENST00000474231.5:c.1714G>T ENSP00000417123.1:p.Glu572Ter
ENST00000541735.5:c.1714G>T ENSP00000444119.1:p.Glu572Ter
ENST00000619831.4:c.9079G>T ENSP00000479270.1:p.Glu3027Ter
ENST00000619831.5:c.5062G>T ENSP00000479270.2:p.Glu1688Ter
ENST00000620040.4:c.9091G>T ENSP00000478150.1:p.Glu3031Ter
ENST00000620040.5:c.1714G>T ENSP00000478150.2:p.Glu572Ter
ENST00000680961.1:c.1714G>T ENSP00000506386.1:p.Glu572Ter
ENST00000681646.1:n.2755G>T
ENST00000682238.1:c.1714G>T ENSP00000508124.1:p.Glu572Ter
ENST00000683675.1:n.193G>T
ENST00000683957.1:n.2586G>T
ENST00000684130.1:c.1714G>T ENSP00000508037.1:p.Glu572Ter
XM_006724468.2:c.9094G>T XP_006724531.1:p.Glu3032Ter
XM_006724469.2:c.9070G>T XP_006724532.1:p.Glu3024Ter
XM_006724469.3:c.9070G>T XP_006724532.1:p.Glu3024Ter
XM_006724470.2:c.9094G>T XP_006724533.1:p.Glu3032Ter
XM_006724470.3:c.9094G>T XP_006724533.1:p.Glu3032Ter
XM_006724471.2:c.9094G>T XP_006724534.1:p.Glu3032Ter
XM_006724472.2:c.8965G>T XP_006724535.1:p.Glu2989Ter
XM_006724473.2:c.8956G>T XP_006724536.1:p.Glu2986Ter
XM_006724474.2:c.9094G>T XP_006724537.1:p.Glu3032Ter
XM_006724474.3:c.9094G>T XP_006724537.1:p.Glu3032Ter
XM_006724475.2:c.9094G>T XP_006724538.1:p.Glu3032Ter
XM_011545467.1:c.8971G>T XP_011543769.1:p.Glu2991Ter
XM_011545468.1:c.9094G>T XP_011543770.1:p.Glu3032Ter
XM_011545468.2:c.9094G>T XP_011543770.1:p.Glu3032Ter
XM_017029328.1:c.9094G>T XP_016884817.1:p.Glu3032Ter
XM_017029331.1:c.3268G>T XP_016884820.1:p.Glu1090Ter