Canonical Allele Identifier: CA2422770109
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32365056G= , CM000685.2:g.32365056G= GRCh38
NC_000023.10:g.32383173G= , CM000685.1:g.32383173G= GRCh37
NC_000023.9:g.32293094G= NCBI36
NG_012232.1:g.979554C= , LRG_199:g.979554C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357033.9:c.4989C= MANE Select ENSP00000354923.3:p.Val1663=
ENST00000619831.5:c.957C= ENSP00000479270.2:p.Val319=
ENST00000357033.8:c.4989C= ENSP00000354923.3:p.Val1663=
ENST00000378677.6:c.4977C= ENSP00000367948.2:p.Val1659=
ENST00000420596.5:c.237C= ENSP00000399897.1:p.Val79=
ENST00000448370.5:c.94-346C= ENSP00000388559.1:n.94-346C=
ENST00000488902.5:n.336-147993C=
ENST00000619831.4:c.4977C= ENSP00000479270.1:p.Val1659=
ENST00000620040.4:c.4989C= ENSP00000478150.1:p.Val1663=
NM_000109.3:c.4965C= NP_000100.2:p.Val1655=
NM_004006.2:c.4989C= , LRG_199t1:c.4989C= NP_003997.1:p.Val1663=
NM_004009.3:c.4977C= NP_004000.1:p.Val1659=
NM_004010.3:c.4620C= NP_004001.1:p.Val1540=
NM_004011.3:c.966C= NP_004002.2:p.Val322=
NM_004012.3:c.957C= NP_004003.1:p.Val319=
XM_006724468.2:c.4989C= XP_006724531.1:p.Val1663=
XM_006724469.2:c.4965C= XP_006724532.1:p.Val1655=
XM_006724470.2:c.4989C= XP_006724533.1:p.Val1663=
XM_006724471.2:c.4989C= XP_006724534.1:p.Val1663=
XM_006724472.2:c.4860C= XP_006724535.1:p.Val1620=
XM_006724473.2:c.4989C= XP_006724536.1:p.Val1663=
XM_006724474.2:c.4989C= XP_006724537.1:p.Val1663=
XM_006724475.2:c.4989C= XP_006724538.1:p.Val1663=
XM_011545467.1:c.4989C= XP_011543769.1:p.Val1663=
XM_011545468.1:c.4989C= XP_011543770.1:p.Val1663=
XM_011545469.1:c.4989C= XP_011543771.1:p.Val1663=
XM_006724469.3:c.4965C= XP_006724532.1:p.Val1655=
XM_006724470.3:c.4989C= XP_006724533.1:p.Val1663=
XM_006724474.3:c.4989C= XP_006724537.1:p.Val1663=
XM_011545468.2:c.4989C= XP_011543770.1:p.Val1663=
XM_017029328.1:c.4989C= XP_016884817.1:p.Val1663=
XM_017029329.1:c.4989C= XP_016884818.1:p.Val1663=
XM_017029330.2:c.4989C= XP_016884819.1:p.Val1663=
NM_000109.4:c.4965C= NP_000100.3:p.Val1655=
NM_004006.3:c.4989C= MANE Select NP_003997.2:p.Val1663=
NM_004011.4:c.966C= NP_004002.3:p.Val322=
NM_004012.4:c.957C= NP_004003.2:p.Val319=