Canonical Allele Identifier: CA515860718

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.32305729C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32287612C>G , CM000685.2:g.32287612C>G	GRCh38
NC_000023.10:g.32305729C>G , CM000685.1:g.32305729C>G	GRCh37
NC_000023.9:g.32215650C>G	NCBI36
NG_012232.1:g.1056998G>C , LRG_199:g.1056998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1053G>C	ENSP00000350765.3:p.Val351=
ENST00000357033.9:c.6207G>C MANE Select	ENSP00000354923.3:p.Val2069=
ENST00000619831.5:c.2175G>C	ENSP00000479270.2:p.Val725=
ENST00000357033.8:c.6207G>C	ENSP00000354923.3:p.Val2069=
ENST00000378677.6:c.6195G>C	ENSP00000367948.2:p.Val2065=
ENST00000488902.5:n.336-70549G>C
ENST00000619831.4:c.6195G>C	ENSP00000479270.1:p.Val2065=
ENST00000620040.4:c.6207G>C	ENSP00000478150.1:p.Val2069=
NM_000109.3:c.6183G>C	NP_000100.2:p.Val2061=
NM_004006.2:c.6207G>C , LRG_199t1:c.6207G>C	NP_003997.1:p.Val2069=
NM_004009.3:c.6195G>C	NP_004000.1:p.Val2065=
NM_004010.3:c.5838G>C	NP_004001.1:p.Val1946=
NM_004011.3:c.2184G>C	NP_004002.2:p.Val728=
NM_004012.3:c.2175G>C	NP_004003.1:p.Val725=
XM_006724468.2:c.6207G>C	XP_006724531.1:p.Val2069=
XM_006724469.2:c.6183G>C	XP_006724532.1:p.Val2061=
XM_006724470.2:c.6207G>C	XP_006724533.1:p.Val2069=
XM_006724471.2:c.6207G>C	XP_006724534.1:p.Val2069=
XM_006724472.2:c.6078G>C	XP_006724535.1:p.Val2026=
XM_006724473.2:c.6069G>C	XP_006724536.1:p.Val2023=
XM_006724474.2:c.6207G>C	XP_006724537.1:p.Val2069=
XM_006724475.2:c.6207G>C	XP_006724538.1:p.Val2069=
XM_011545467.1:c.6084G>C	XP_011543769.1:p.Val2028=
XM_011545468.1:c.6207G>C	XP_011543770.1:p.Val2069=
XM_006724469.3:c.6183G>C	XP_006724532.1:p.Val2061=
XM_006724470.3:c.6207G>C	XP_006724533.1:p.Val2069=
XM_006724474.3:c.6207G>C	XP_006724537.1:p.Val2069=
XM_011545468.2:c.6207G>C	XP_011543770.1:p.Val2069=
XM_017029328.1:c.6207G>C	XP_016884817.1:p.Val2069=
XM_017029329.1:c.6207G>C	XP_016884818.1:p.Val2069=
XM_017029330.2:c.6207G>C	XP_016884819.1:p.Val2069=
XM_017029331.1:c.381G>C	XP_016884820.1:p.Val127=
NM_000109.4:c.6183G>C	NP_000100.3:p.Val2061=
NM_004006.3:c.6207G>C MANE Select	NP_003997.2:p.Val2069=
NM_004011.4:c.2184G>C	NP_004002.3:p.Val728=
NM_004012.4:c.2175G>C	NP_004003.2:p.Val725=