Canonical Allele Identifier: CA341031
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 11224
ClinVar RCV Id: RCV000011975
dbSNP Id: rs267606770

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32501821C>A , CM000685.2:g.32501821C>A GRCh38
NC_000023.10:g.32519938C>A , CM000685.1:g.32519938C>A GRCh37
NC_000023.9:g.32429859C>A NCBI36
NG_012232.1:g.842789G>T , LRG_199:g.842789G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682899.1:n.2521G>T
ENST00000683985.1:n.2521G>T
ENST00000357033.9:c.2314G>T MANE Select ENSP00000354923.3:p.Glu772Ter
ENST00000357033.8:c.2314G>T ENSP00000354923.3:p.Glu772Ter
ENST00000378677.6:c.2302G>T ENSP00000367948.2:p.Glu768Ter
ENST00000420596.5:c.94-136622G>T ENSP00000399897.1:n.94-136622G>T
ENST00000448370.5:c.94-137111G>T ENSP00000388559.1:n.94-137111G>T
ENST00000488902.5:n.336-284758G>T
ENST00000619831.4:c.2302G>T ENSP00000479270.1:p.Glu768Ter
ENST00000620040.4:c.2314G>T ENSP00000478150.1:p.Glu772Ter
NM_000109.3:c.2290G>T NP_000100.2:p.Glu764Ter
NM_004006.2:c.2314G>T , LRG_199t1:c.2314G>T NP_003997.1:p.Glu772Ter
NM_004009.3:c.2302G>T NP_004000.1:p.Glu768Ter
NM_004010.3:c.1945G>T NP_004001.1:p.Glu649Ter
XM_006724468.2:c.2314G>T XP_006724531.1:p.Glu772Ter
XM_006724469.2:c.2290G>T XP_006724532.1:p.Glu764Ter
XM_006724470.2:c.2314G>T XP_006724533.1:p.Glu772Ter
XM_006724471.2:c.2314G>T XP_006724534.1:p.Glu772Ter
XM_006724472.2:c.2185G>T XP_006724535.1:p.Glu729Ter
XM_006724473.2:c.2314G>T XP_006724536.1:p.Glu772Ter
XM_006724474.2:c.2314G>T XP_006724537.1:p.Glu772Ter
XM_006724475.2:c.2314G>T XP_006724538.1:p.Glu772Ter
XM_011545467.1:c.2314G>T XP_011543769.1:p.Glu772Ter
XM_011545468.1:c.2314G>T XP_011543770.1:p.Glu772Ter
XM_011545469.1:c.2314G>T XP_011543771.1:p.Glu772Ter
XM_006724469.3:c.2290G>T XP_006724532.1:p.Glu764Ter
XM_006724470.3:c.2314G>T XP_006724533.1:p.Glu772Ter
XM_006724474.3:c.2314G>T XP_006724537.1:p.Glu772Ter
XM_011545468.2:c.2314G>T XP_011543770.1:p.Glu772Ter
XM_017029328.1:c.2314G>T XP_016884817.1:p.Glu772Ter
XM_017029329.1:c.2314G>T XP_016884818.1:p.Glu772Ter
XM_017029330.2:c.2314G>T XP_016884819.1:p.Glu772Ter
NM_000109.4:c.2290G>T NP_000100.3:p.Glu764Ter
NM_004006.3:c.2314G>T MANE Select NP_003997.2:p.Glu772Ter