Canonical Allele Identifier: CA10379930

Gene: DMD

Linked Data

• ClinVar Variation Id: 455860
• ClinVar RCV Id: RCV000619591 ; RCV000540670 ; RCV001834721
• dbSNP Id: rs748964279
• ExAC: X:32662271 C / G
• gnomAD v2: X-32662271-C-G
• gnomAD v3: X-32644154-C-G
• gnomAD v4: X-32644154-C-G
• MyVariant Identifiers: chrX:g.32662271C>G (hg19) ; chrX:g.32644154C>G (hg38)
• PubMed: PMID:19937601

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32644154C>G , CM000685.2:g.32644154C>G	GRCh38
NC_000023.10:g.32662271C>G , CM000685.1:g.32662271C>G	GRCh37
NC_000023.9:g.32572192C>G	NCBI36
NG_012232.1:g.700456G>C , LRG_199:g.700456G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682071.1:c.940G>C	ENSP00000508133.1:p.Ala314Pro
ENST00000682899.1:n.1516G>C
ENST00000682924.1:c.1309G>C	ENSP00000508187.1:p.Ala437Pro
ENST00000683985.1:n.1516G>C
ENST00000684165.1:n.1516G>C
ENST00000684237.1:c.1180G>C	ENSP00000507277.1:p.Ala394Pro
ENST00000684292.1:n.1516G>C
ENST00000288447.9:c.1285G>C	ENSP00000288447.4:p.Ala429Pro
ENST00000357033.9:c.1309G>C MANE Select	ENSP00000354923.3:p.Ala437Pro
ENST00000288447.8:c.1285G>C	ENSP00000288447.4:p.Ala429Pro
ENST00000357033.8:c.1309G>C	ENSP00000354923.3:p.Ala437Pro
ENST00000378677.6:c.1297G>C	ENSP00000367948.2:p.Ala433Pro
ENST00000420596.5:c.94-278955G>C	ENSP00000399897.1:n.94-278955G>C
ENST00000447523.1:c.247-70308G>C	ENSP00000395904.1:n.247-70308G>C
ENST00000448370.5:c.94-279444G>C	ENSP00000388559.1:n.94-279444G>C
ENST00000480751.1:n.87-70308G>C
ENST00000488902.5:n.335+375985G>C
ENST00000619831.4:c.1297G>C	ENSP00000479270.1:p.Ala433Pro
ENST00000620040.4:c.1309G>C	ENSP00000478150.1:p.Ala437Pro
NM_000109.3:c.1285G>C	NP_000100.2:p.Ala429Pro
NM_004006.2:c.1309G>C , LRG_199t1:c.1309G>C	NP_003997.1:p.Ala437Pro
NM_004009.3:c.1297G>C	NP_004000.1:p.Ala433Pro
NM_004010.3:c.940G>C	NP_004001.1:p.Ala314Pro
XM_006724468.2:c.1309G>C	XP_006724531.1:p.Ala437Pro
XM_006724469.2:c.1285G>C	XP_006724532.1:p.Ala429Pro
XM_006724470.2:c.1309G>C	XP_006724533.1:p.Ala437Pro
XM_006724471.2:c.1309G>C	XP_006724534.1:p.Ala437Pro
XM_006724472.2:c.1180G>C	XP_006724535.1:p.Ala394Pro
XM_006724473.2:c.1309G>C	XP_006724536.1:p.Ala437Pro
XM_006724474.2:c.1309G>C	XP_006724537.1:p.Ala437Pro
XM_006724475.2:c.1309G>C	XP_006724538.1:p.Ala437Pro
XM_011545467.1:c.1309G>C	XP_011543769.1:p.Ala437Pro
XM_011545468.1:c.1309G>C	XP_011543770.1:p.Ala437Pro
XM_011545469.1:c.1309G>C	XP_011543771.1:p.Ala437Pro
XM_006724469.3:c.1285G>C	XP_006724532.1:p.Ala429Pro
XM_006724470.3:c.1309G>C	XP_006724533.1:p.Ala437Pro
XM_006724474.3:c.1309G>C	XP_006724537.1:p.Ala437Pro
XM_011545468.2:c.1309G>C	XP_011543770.1:p.Ala437Pro
XM_017029328.1:c.1309G>C	XP_016884817.1:p.Ala437Pro
XM_017029329.1:c.1309G>C	XP_016884818.1:p.Ala437Pro
XM_017029330.2:c.1309G>C	XP_016884819.1:p.Ala437Pro
NM_000109.4:c.1285G>C	NP_000100.3:p.Ala429Pro
NM_004006.3:c.1309G>C MANE Select	NP_003997.2:p.Ala437Pro