Canonical Allele Identifier: CA412674323
Community Standard Title: NM_004006.3(DMD):c.388G>T (p.Gly130Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32816610C>A , CM000685.2:g.32816610C>A GRCh38
NC_000023.10:g.32834727C>A , CM000685.1:g.32834727C>A GRCh37
NC_000023.9:g.32744648C>A NCBI36
NG_012232.1:g.528000G>T , LRG_199:g.528000G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.388G>T MANE Select NP_003997.2:p.Gly130Ter
ENST00000357033.9:c.388G>T MANE Select ENSP00000354923.3:p.Gly130Ter
NM_000109.3:c.364G>T NP_000100.2:p.Gly122Ter
NM_000109.4:c.364G>T NP_000100.3:p.Gly122Ter
NM_004006.2:c.388G>T , LRG_199t1:c.388G>T NP_003997.1:p.Gly130Ter
NM_004009.3:c.376G>T NP_004000.1:p.Gly126Ter
NM_004010.3:c.19G>T NP_004001.1:p.Gly7Ter
ENST00000288447.8:c.364G>T ENSP00000288447.4:p.Gly122Ter
ENST00000288447.9:c.364G>T ENSP00000288447.4:p.Gly122Ter
ENST00000357033.8:c.388G>T ENSP00000354923.3:p.Gly130Ter
ENST00000378677.6:c.376G>T ENSP00000367948.2:p.Gly126Ter
ENST00000420596.5:c.93+203529G>T ENSP00000399897.1:n.93+203529G>T
ENST00000447523.1:c.246+6685G>T ENSP00000395904.1:n.246+6685G>T
ENST00000448370.5:c.93+203529G>T ENSP00000388559.1:n.93+203529G>T
ENST00000488902.5:n.335+203529G>T
ENST00000619831.4:c.376G>T ENSP00000479270.1:p.Gly126Ter
ENST00000620040.4:c.388G>T ENSP00000478150.1:p.Gly130Ter
ENST00000682071.1:c.19G>T ENSP00000508133.1:p.Gly7Ter
ENST00000682437.1:n.712G>T
ENST00000682870.1:n.573G>T
ENST00000682899.1:n.595G>T
ENST00000682924.1:c.388G>T ENSP00000508187.1:p.Gly130Ter
ENST00000683309.1:n.572G>T
ENST00000683658.1:n.733G>T
ENST00000683985.1:n.595G>T
ENST00000684056.1:n.572G>T
ENST00000684165.1:n.595G>T
ENST00000684237.1:c.388G>T ENSP00000507277.1:p.Gly130Ter
ENST00000684292.1:n.595G>T
ENST00000684660.1:n.573G>T
XM_006724468.2:c.388G>T XP_006724531.1:p.Gly130Ter
XM_006724469.2:c.364G>T XP_006724532.1:p.Gly122Ter
XM_006724469.3:c.364G>T XP_006724532.1:p.Gly122Ter
XM_006724470.2:c.388G>T XP_006724533.1:p.Gly130Ter
XM_006724470.3:c.388G>T XP_006724533.1:p.Gly130Ter
XM_006724471.2:c.388G>T XP_006724534.1:p.Gly130Ter
XM_006724472.2:c.388G>T XP_006724535.1:p.Gly130Ter
XM_006724473.2:c.388G>T XP_006724536.1:p.Gly130Ter
XM_006724474.2:c.388G>T XP_006724537.1:p.Gly130Ter
XM_006724474.3:c.388G>T XP_006724537.1:p.Gly130Ter
XM_006724475.2:c.388G>T XP_006724538.1:p.Gly130Ter
XM_011545467.1:c.388G>T XP_011543769.1:p.Gly130Ter
XM_011545468.1:c.388G>T XP_011543770.1:p.Gly130Ter
XM_011545468.2:c.388G>T XP_011543770.1:p.Gly130Ter
XM_011545469.1:c.388G>T XP_011543771.1:p.Gly130Ter
XM_017029328.1:c.388G>T XP_016884817.1:p.Gly130Ter
XM_017029329.1:c.388G>T XP_016884818.1:p.Gly130Ter
XM_017029330.2:c.388G>T XP_016884819.1:p.Gly130Ter