Canonical Allele Identifier: CA267031

Gene: DMD

Linked Data

• ClinVar Variation Id: 94630
• ClinVar RCV Id: RCV000555028 ; RCV000727552
• dbSNP Id: rs398123960
• MyVariant Identifiers: chrX:g.32407613C>T (hg19) ; chrX:g.32389496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32389496C>T , CM000685.2:g.32389496C>T	GRCh38
NC_000023.10:g.32407613C>T , CM000685.1:g.32407613C>T	GRCh37
NC_000023.9:g.32317534C>T	NCBI36
NG_012232.1:g.955114G>A , LRG_199:g.955114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4518+5G>A MANE Select	ENSP00000354923.3:n.4518+5G>A
ENST00000619831.5:c.486+5G>A	ENSP00000479270.2:n.486+5G>A
ENST00000357033.8:c.4518+5G>A	ENSP00000354923.3:n.4518+5G>A
ENST00000378677.6:c.4506+5G>A	ENSP00000367948.2:n.4506+5G>A
ENST00000420596.5:c.94-24297G>A	ENSP00000399897.1:n.94-24297G>A
ENST00000448370.5:c.94-24786G>A	ENSP00000388559.1:n.94-24786G>A
ENST00000488902.5:n.336-172433G>A
ENST00000619831.4:c.4506+5G>A	ENSP00000479270.1:n.4506+5G>A
ENST00000620040.4:c.4518+5G>A	ENSP00000478150.1:n.4518+5G>A
NM_000109.3:c.4494+5G>A	NP_000100.2:n.4494+5G>A
NM_004006.2:c.4518+5G>A , LRG_199t1:c.4518+5G>A	NP_003997.1:n.4518+5G>A
NM_004009.3:c.4506+5G>A	NP_004000.1:n.4506+5G>A
NM_004010.3:c.4149+5G>A	NP_004001.1:n.4149+5G>A
NM_004011.3:c.495+5G>A	NP_004002.2:n.495+5G>A
NM_004012.3:c.486+5G>A	NP_004003.1:n.486+5G>A
XM_006724468.2:c.4518+5G>A	XP_006724531.1:n.4518+5G>A
XM_006724469.2:c.4494+5G>A	XP_006724532.1:n.4494+5G>A
XM_006724470.2:c.4518+5G>A	XP_006724533.1:n.4518+5G>A
XM_006724471.2:c.4518+5G>A	XP_006724534.1:n.4518+5G>A
XM_006724472.2:c.4389+5G>A	XP_006724535.1:n.4389+5G>A
XM_006724473.2:c.4518+5G>A	XP_006724536.1:n.4518+5G>A
XM_006724474.2:c.4518+5G>A	XP_006724537.1:n.4518+5G>A
XM_006724475.2:c.4518+5G>A	XP_006724538.1:n.4518+5G>A
XM_011545467.1:c.4518+5G>A	XP_011543769.1:n.4518+5G>A
XM_011545468.1:c.4518+5G>A	XP_011543770.1:n.4518+5G>A
XM_011545469.1:c.4518+5G>A	XP_011543771.1:n.4518+5G>A
XM_006724469.3:c.4494+5G>A	XP_006724532.1:n.4494+5G>A
XM_006724470.3:c.4518+5G>A	XP_006724533.1:n.4518+5G>A
XM_006724474.3:c.4518+5G>A	XP_006724537.1:n.4518+5G>A
XM_011545468.2:c.4518+5G>A	XP_011543770.1:n.4518+5G>A
XM_017029328.1:c.4518+5G>A	XP_016884817.1:n.4518+5G>A
XM_017029329.1:c.4518+5G>A	XP_016884818.1:n.4518+5G>A
XM_017029330.2:c.4518+5G>A	XP_016884819.1:n.4518+5G>A
NM_000109.4:c.4494+5G>A	NP_000100.3:n.4494+5G>A
NM_004006.3:c.4518+5G>A MANE Select	NP_003997.2:n.4518+5G>A
NM_004011.4:c.495+5G>A	NP_004002.3:n.495+5G>A
NM_004012.4:c.486+5G>A	NP_004003.2:n.486+5G>A