Canonical Allele Identifier: CA412660945
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 523468
dbSNP Id: rs1557315928

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32380517C>T , CM000685.2:g.32380517C>T GRCh38
NC_000023.10:g.32398634C>T , CM000685.1:g.32398634C>T GRCh37
NC_000023.9:g.32308555C>T NCBI36
NG_012232.1:g.964093G>A , LRG_199:g.964093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357033.9:c.4838G>A MANE Select ENSP00000354923.3:p.Trp1613Ter
ENST00000619831.5:c.806G>A ENSP00000479270.2:p.Trp269Ter
ENST00000357033.8:c.4838G>A ENSP00000354923.3:p.Trp1613Ter
ENST00000378677.6:c.4826G>A ENSP00000367948.2:p.Trp1609Ter
ENST00000420596.5:c.94-15318G>A ENSP00000399897.1:n.94-15318G>A
ENST00000448370.5:c.94-15807G>A ENSP00000388559.1:n.94-15807G>A
ENST00000488902.5:n.336-163454G>A
ENST00000619831.4:c.4826G>A ENSP00000479270.1:p.Trp1609Ter
ENST00000620040.4:c.4838G>A ENSP00000478150.1:p.Trp1613Ter
NM_000109.3:c.4814G>A NP_000100.2:p.Trp1605Ter
NM_004006.2:c.4838G>A , LRG_199t1:c.4838G>A NP_003997.1:p.Trp1613Ter
NM_004009.3:c.4826G>A NP_004000.1:p.Trp1609Ter
NM_004010.3:c.4469G>A NP_004001.1:p.Trp1490Ter
NM_004011.3:c.815G>A NP_004002.2:p.Trp272Ter
NM_004012.3:c.806G>A NP_004003.1:p.Trp269Ter
XM_006724468.2:c.4838G>A XP_006724531.1:p.Trp1613Ter
XM_006724469.2:c.4814G>A XP_006724532.1:p.Trp1605Ter
XM_006724470.2:c.4838G>A XP_006724533.1:p.Trp1613Ter
XM_006724471.2:c.4838G>A XP_006724534.1:p.Trp1613Ter
XM_006724472.2:c.4709G>A XP_006724535.1:p.Trp1570Ter
XM_006724473.2:c.4838G>A XP_006724536.1:p.Trp1613Ter
XM_006724474.2:c.4838G>A XP_006724537.1:p.Trp1613Ter
XM_006724475.2:c.4838G>A XP_006724538.1:p.Trp1613Ter
XM_011545467.1:c.4838G>A XP_011543769.1:p.Trp1613Ter
XM_011545468.1:c.4838G>A XP_011543770.1:p.Trp1613Ter
XM_011545469.1:c.4838G>A XP_011543771.1:p.Trp1613Ter
XM_006724469.3:c.4814G>A XP_006724532.1:p.Trp1605Ter
XM_006724470.3:c.4838G>A XP_006724533.1:p.Trp1613Ter
XM_006724474.3:c.4838G>A XP_006724537.1:p.Trp1613Ter
XM_011545468.2:c.4838G>A XP_011543770.1:p.Trp1613Ter
XM_017029328.1:c.4838G>A XP_016884817.1:p.Trp1613Ter
XM_017029329.1:c.4838G>A XP_016884818.1:p.Trp1613Ter
XM_017029330.2:c.4838G>A XP_016884819.1:p.Trp1613Ter
NM_000109.4:c.4814G>A NP_000100.3:p.Trp1605Ter
NM_004006.3:c.4838G>A MANE Select NP_003997.2:p.Trp1613Ter
NM_004011.4:c.815G>A NP_004002.3:p.Trp272Ter
NM_004012.4:c.806G>A NP_004003.2:p.Trp269Ter