Canonical Allele Identifier: CA412666380

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.32305775A>G (hg19) ; chrX:g.32287658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287658A>G , CM000685.2:g.32287658A>G	GRCh38
NC_000023.10:g.32305775A>G , CM000685.1:g.32305775A>G	GRCh37
NC_000023.9:g.32215696A>G	NCBI36
NG_012232.1:g.1056952T>C , LRG_199:g.1056952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1007T>C	ENSP00000350765.3:p.Ile336Thr
ENST00000357033.9:c.6161T>C MANE Select	ENSP00000354923.3:p.Ile2054Thr
ENST00000619831.5:c.2129T>C	ENSP00000479270.2:p.Ile710Thr
ENST00000357033.8:c.6161T>C	ENSP00000354923.3:p.Ile2054Thr
ENST00000378677.6:c.6149T>C	ENSP00000367948.2:p.Ile2050Thr
ENST00000488902.5:n.336-70595T>C
ENST00000619831.4:c.6149T>C	ENSP00000479270.1:p.Ile2050Thr
ENST00000620040.4:c.6161T>C	ENSP00000478150.1:p.Ile2054Thr
NM_000109.3:c.6137T>C	NP_000100.2:p.Ile2046Thr
NM_004006.2:c.6161T>C , LRG_199t1:c.6161T>C	NP_003997.1:p.Ile2054Thr
NM_004009.3:c.6149T>C	NP_004000.1:p.Ile2050Thr
NM_004010.3:c.5792T>C	NP_004001.1:p.Ile1931Thr
NM_004011.3:c.2138T>C	NP_004002.2:p.Ile713Thr
NM_004012.3:c.2129T>C	NP_004003.1:p.Ile710Thr
XM_006724468.2:c.6161T>C	XP_006724531.1:p.Ile2054Thr
XM_006724469.2:c.6137T>C	XP_006724532.1:p.Ile2046Thr
XM_006724470.2:c.6161T>C	XP_006724533.1:p.Ile2054Thr
XM_006724471.2:c.6161T>C	XP_006724534.1:p.Ile2054Thr
XM_006724472.2:c.6032T>C	XP_006724535.1:p.Ile2011Thr
XM_006724473.2:c.6023T>C	XP_006724536.1:p.Ile2008Thr
XM_006724474.2:c.6161T>C	XP_006724537.1:p.Ile2054Thr
XM_006724475.2:c.6161T>C	XP_006724538.1:p.Ile2054Thr
XM_011545467.1:c.6038T>C	XP_011543769.1:p.Ile2013Thr
XM_011545468.1:c.6161T>C	XP_011543770.1:p.Ile2054Thr
XM_006724469.3:c.6137T>C	XP_006724532.1:p.Ile2046Thr
XM_006724470.3:c.6161T>C	XP_006724533.1:p.Ile2054Thr
XM_006724474.3:c.6161T>C	XP_006724537.1:p.Ile2054Thr
XM_011545468.2:c.6161T>C	XP_011543770.1:p.Ile2054Thr
XM_017029328.1:c.6161T>C	XP_016884817.1:p.Ile2054Thr
XM_017029329.1:c.6161T>C	XP_016884818.1:p.Ile2054Thr
XM_017029330.2:c.6161T>C	XP_016884819.1:p.Ile2054Thr
XM_017029331.1:c.335T>C	XP_016884820.1:p.Ile112Thr
NM_000109.4:c.6137T>C	NP_000100.3:p.Ile2046Thr
NM_004006.3:c.6161T>C MANE Select	NP_003997.2:p.Ile2054Thr
NM_004011.4:c.2138T>C	NP_004002.3:p.Ile713Thr
NM_004012.4:c.2129T>C	NP_004003.2:p.Ile710Thr