Canonical Allele Identifier: CA328002418

Gene: DMD

Linked Data

• dbSNP Id: rs916706146
• gnomAD v4: X-32464624-C-G
• MyVariant Identifiers: chrX:g.32482741C>G (hg19) ; chrX:g.32464624C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32464624C>G , CM000685.2:g.32464624C>G	GRCh38
NC_000023.10:g.32482741C>G , CM000685.1:g.32482741C>G	GRCh37
NC_000023.9:g.32392662C>G	NCBI36
NG_012232.1:g.879986G>C , LRG_199:g.879986G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3445G>C
ENST00000357033.9:c.3238G>C MANE Select	ENSP00000354923.3:p.Asp1080His
ENST00000357033.8:c.3238G>C	ENSP00000354923.3:p.Asp1080His
ENST00000378677.6:c.3226G>C	ENSP00000367948.2:p.Asp1076His
ENST00000420596.5:c.94-99425G>C	ENSP00000399897.1:n.94-99425G>C
ENST00000448370.5:c.94-99914G>C	ENSP00000388559.1:n.94-99914G>C
ENST00000488902.5:n.336-247561G>C
ENST00000619831.4:c.3226G>C	ENSP00000479270.1:p.Asp1076His
ENST00000620040.4:c.3238G>C	ENSP00000478150.1:p.Asp1080His
NM_000109.3:c.3214G>C	NP_000100.2:p.Asp1072His
NM_004006.2:c.3238G>C , LRG_199t1:c.3238G>C	NP_003997.1:p.Asp1080His
NM_004009.3:c.3226G>C	NP_004000.1:p.Asp1076His
NM_004010.3:c.2869G>C	NP_004001.1:p.Asp957His
XM_006724468.2:c.3238G>C	XP_006724531.1:p.Asp1080His
XM_006724469.2:c.3214G>C	XP_006724532.1:p.Asp1072His
XM_006724470.2:c.3238G>C	XP_006724533.1:p.Asp1080His
XM_006724471.2:c.3238G>C	XP_006724534.1:p.Asp1080His
XM_006724472.2:c.3109G>C	XP_006724535.1:p.Asp1037His
XM_006724473.2:c.3238G>C	XP_006724536.1:p.Asp1080His
XM_006724474.2:c.3238G>C	XP_006724537.1:p.Asp1080His
XM_006724475.2:c.3238G>C	XP_006724538.1:p.Asp1080His
XM_011545467.1:c.3238G>C	XP_011543769.1:p.Asp1080His
XM_011545468.1:c.3238G>C	XP_011543770.1:p.Asp1080His
XM_011545469.1:c.3238G>C	XP_011543771.1:p.Asp1080His
XM_006724469.3:c.3214G>C	XP_006724532.1:p.Asp1072His
XM_006724470.3:c.3238G>C	XP_006724533.1:p.Asp1080His
XM_006724474.3:c.3238G>C	XP_006724537.1:p.Asp1080His
XM_011545468.2:c.3238G>C	XP_011543770.1:p.Asp1080His
XM_017029328.1:c.3238G>C	XP_016884817.1:p.Asp1080His
XM_017029329.1:c.3238G>C	XP_016884818.1:p.Asp1080His
XM_017029330.2:c.3238G>C	XP_016884819.1:p.Asp1080His
NM_000109.4:c.3214G>C	NP_000100.3:p.Asp1072His
NM_004006.3:c.3238G>C MANE Select	NP_003997.2:p.Asp1080His