Canonical Allele Identifier: CA10465533

Gene: CHM

Linked Data

• dbSNP Id: rs746630792
• ExAC: X:85213933 A / T
• gnomAD v2: X-85213933-A-T
• gnomAD v4: X-85958928-A-T
• MyVariant Identifiers: chrX:g.85213933A>T (hg19) ; chrX:g.85958928A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958928A>T , CM000685.2:g.85958928A>T	GRCh38
NC_000023.10:g.85213933A>T , CM000685.1:g.85213933A>T	GRCh37
NC_000023.9:g.85100589A>T	NCBI36
NG_009874.2:g.93635T>A , LRG_699:g.93635T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.752T>A MANE Select	ENSP00000350386.2:p.Val251Asp
ENST00000357749.6:c.752T>A	ENSP00000350386.2:p.Val251Asp
ENST00000467744.2:n.126+68563T>A
NM_000390.2:c.752T>A , LRG_699t1:c.752T>A	NP_000381.1:p.Val251Asp
XM_006724615.2:c.689T>A	XP_006724678.1:p.Val230Asp
XM_011530839.1:c.308T>A	XP_011529141.1:p.Val103Asp
NM_000390.3:c.752T>A	NP_000381.1:p.Val251Asp
NM_001320959.1:c.308T>A	NP_001307888.1:p.Val103Asp
NM_001362517.1:c.308T>A	NP_001349446.1:p.Val103Asp
NM_001362518.1:c.308T>A	NP_001349447.1:p.Val103Asp
NM_001362519.1:c.308T>A	NP_001349448.1:p.Val103Asp
XM_017029242.2:c.752T>A	XP_016884731.1:p.Val251Asp
XM_017029246.1:c.308T>A	XP_016884735.1:p.Val103Asp
XM_024452331.1:c.308T>A	XP_024308099.1:p.Val103Asp
NM_000390.4:c.752T>A MANE Select	NP_000381.1:p.Val251Asp
NM_001362518.2:c.308T>A	NP_001349447.1:p.Val103Asp