Canonical Allele Identifier: CA412666184

Gene: DMD

Linked Data

• dbSNP Id: rs2148457312
• MyVariant Identifiers: chrX:g.32305748A>T (hg19) ; chrX:g.32287631A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287631A>T , CM000685.2:g.32287631A>T	GRCh38
NC_000023.10:g.32305748A>T , CM000685.1:g.32305748A>T	GRCh37
NC_000023.9:g.32215669A>T	NCBI36
NG_012232.1:g.1056979T>A , LRG_199:g.1056979T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1034T>A	ENSP00000350765.3:p.Leu345Ter
ENST00000357033.9:c.6188T>A MANE Select	ENSP00000354923.3:p.Leu2063Ter
ENST00000619831.5:c.2156T>A	ENSP00000479270.2:p.Leu719Ter
ENST00000357033.8:c.6188T>A	ENSP00000354923.3:p.Leu2063Ter
ENST00000378677.6:c.6176T>A	ENSP00000367948.2:p.Leu2059Ter
ENST00000488902.5:n.336-70568T>A
ENST00000619831.4:c.6176T>A	ENSP00000479270.1:p.Leu2059Ter
ENST00000620040.4:c.6188T>A	ENSP00000478150.1:p.Leu2063Ter
NM_000109.3:c.6164T>A	NP_000100.2:p.Leu2055Ter
NM_004006.2:c.6188T>A , LRG_199t1:c.6188T>A	NP_003997.1:p.Leu2063Ter
NM_004009.3:c.6176T>A	NP_004000.1:p.Leu2059Ter
NM_004010.3:c.5819T>A	NP_004001.1:p.Leu1940Ter
NM_004011.3:c.2165T>A	NP_004002.2:p.Leu722Ter
NM_004012.3:c.2156T>A	NP_004003.1:p.Leu719Ter
XM_006724468.2:c.6188T>A	XP_006724531.1:p.Leu2063Ter
XM_006724469.2:c.6164T>A	XP_006724532.1:p.Leu2055Ter
XM_006724470.2:c.6188T>A	XP_006724533.1:p.Leu2063Ter
XM_006724471.2:c.6188T>A	XP_006724534.1:p.Leu2063Ter
XM_006724472.2:c.6059T>A	XP_006724535.1:p.Leu2020Ter
XM_006724473.2:c.6050T>A	XP_006724536.1:p.Leu2017Ter
XM_006724474.2:c.6188T>A	XP_006724537.1:p.Leu2063Ter
XM_006724475.2:c.6188T>A	XP_006724538.1:p.Leu2063Ter
XM_011545467.1:c.6065T>A	XP_011543769.1:p.Leu2022Ter
XM_011545468.1:c.6188T>A	XP_011543770.1:p.Leu2063Ter
XM_006724469.3:c.6164T>A	XP_006724532.1:p.Leu2055Ter
XM_006724470.3:c.6188T>A	XP_006724533.1:p.Leu2063Ter
XM_006724474.3:c.6188T>A	XP_006724537.1:p.Leu2063Ter
XM_011545468.2:c.6188T>A	XP_011543770.1:p.Leu2063Ter
XM_017029328.1:c.6188T>A	XP_016884817.1:p.Leu2063Ter
XM_017029329.1:c.6188T>A	XP_016884818.1:p.Leu2063Ter
XM_017029330.2:c.6188T>A	XP_016884819.1:p.Leu2063Ter
XM_017029331.1:c.362T>A	XP_016884820.1:p.Leu121Ter
NM_000109.4:c.6164T>A	NP_000100.3:p.Leu2055Ter
NM_004006.3:c.6188T>A MANE Select	NP_003997.2:p.Leu2063Ter
NM_004011.4:c.2165T>A	NP_004002.3:p.Leu722Ter
NM_004012.4:c.2156T>A	NP_004003.2:p.Leu719Ter