Canonical Allele Identifier: CA222419

Gene: DMD

Linked Data

• dbSNP Id: rs398123975
• gnomAD v4: X-32365023-C-G
• MyVariant Identifiers: chrX:g.32383140C>G (hg19) ; chrX:g.32365023C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365023C>G , CM000685.2:g.32365023C>G	GRCh38
NC_000023.10:g.32383140C>G , CM000685.1:g.32383140C>G	GRCh37
NC_000023.9:g.32293061C>G	NCBI36
NG_012232.1:g.979587G>C , LRG_199:g.979587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.5022G>C MANE Select	ENSP00000354923.3:p.Leu1674Phe
ENST00000619831.5:c.990G>C	ENSP00000479270.2:p.Leu330Phe
ENST00000357033.8:c.5022G>C	ENSP00000354923.3:p.Leu1674Phe
ENST00000378677.6:c.5010G>C	ENSP00000367948.2:p.Leu1670Phe
ENST00000420596.5:c.270G>C	ENSP00000399897.1:p.Leu90Phe
ENST00000448370.5:c.94-313G>C	ENSP00000388559.1:n.94-313G>C
ENST00000488902.5:n.336-147960G>C
ENST00000619831.4:c.5010G>C	ENSP00000479270.1:p.Leu1670Phe
ENST00000620040.4:c.5022G>C	ENSP00000478150.1:p.Leu1674Phe
NM_000109.3:c.4998G>C	NP_000100.2:p.Leu1666Phe
NM_004006.2:c.5022G>C , LRG_199t1:c.5022G>C	NP_003997.1:p.Leu1674Phe
NM_004009.3:c.5010G>C	NP_004000.1:p.Leu1670Phe
NM_004010.3:c.4653G>C	NP_004001.1:p.Leu1551Phe
NM_004011.3:c.999G>C	NP_004002.2:p.Leu333Phe
NM_004012.3:c.990G>C	NP_004003.1:p.Leu330Phe
XM_006724468.2:c.5022G>C	XP_006724531.1:p.Leu1674Phe
XM_006724469.2:c.4998G>C	XP_006724532.1:p.Leu1666Phe
XM_006724470.2:c.5022G>C	XP_006724533.1:p.Leu1674Phe
XM_006724471.2:c.5022G>C	XP_006724534.1:p.Leu1674Phe
XM_006724472.2:c.4893G>C	XP_006724535.1:p.Leu1631Phe
XM_006724473.2:c.5022G>C	XP_006724536.1:p.Leu1674Phe
XM_006724474.2:c.5022G>C	XP_006724537.1:p.Leu1674Phe
XM_006724475.2:c.5022G>C	XP_006724538.1:p.Leu1674Phe
XM_011545467.1:c.5022G>C	XP_011543769.1:p.Leu1674Phe
XM_011545468.1:c.5022G>C	XP_011543770.1:p.Leu1674Phe
XM_011545469.1:c.5022G>C	XP_011543771.1:p.Leu1674Phe
XM_006724469.3:c.4998G>C	XP_006724532.1:p.Leu1666Phe
XM_006724470.3:c.5022G>C	XP_006724533.1:p.Leu1674Phe
XM_006724474.3:c.5022G>C	XP_006724537.1:p.Leu1674Phe
XM_011545468.2:c.5022G>C	XP_011543770.1:p.Leu1674Phe
XM_017029328.1:c.5022G>C	XP_016884817.1:p.Leu1674Phe
XM_017029329.1:c.5022G>C	XP_016884818.1:p.Leu1674Phe
XM_017029330.2:c.5022G>C	XP_016884819.1:p.Leu1674Phe
NM_000109.4:c.4998G>C	NP_000100.3:p.Leu1666Phe
NM_004006.3:c.5022G>C MANE Select	NP_003997.2:p.Leu1674Phe
NM_004011.4:c.999G>C	NP_004002.3:p.Leu333Phe
NM_004012.4:c.990G>C	NP_004003.2:p.Leu330Phe