Canonical Allele Identifier: CA10465569

Gene: CHM

Linked Data

• dbSNP Id: rs569919713
• ExAC: X:85218875 G / A
• gnomAD v2: X-85218875-G-A
• gnomAD v3: X-85963870-G-A
• gnomAD v4: X-85963870-G-A
• COSMIC: COSM243684
• MyVariant Identifiers: chrX:g.85218875G>A (hg19) ; chrX:g.85963870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963870G>A , CM000685.2:g.85963870G>A	GRCh38
NC_000023.10:g.85218875G>A , CM000685.1:g.85218875G>A	GRCh37
NC_000023.9:g.85105531G>A	NCBI36
NG_009874.2:g.88693C>T , LRG_699:g.88693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.497C>T MANE Select	ENSP00000350386.2:p.Ala166Val
ENST00000357749.6:c.497C>T	ENSP00000350386.2:p.Ala166Val
ENST00000467744.2:n.126+63621C>T
NM_000390.2:c.497C>T , LRG_699t1:c.497C>T	NP_000381.1:p.Ala166Val
XM_006724615.2:c.434C>T	XP_006724678.1:p.Ala145Val
XM_011530839.1:c.53C>T	XP_011529141.1:p.Ala18Val
NM_000390.3:c.497C>T	NP_000381.1:p.Ala166Val
NM_001320959.1:c.53C>T	NP_001307888.1:p.Ala18Val
NM_001362517.1:c.53C>T	NP_001349446.1:p.Ala18Val
NM_001362518.1:c.53C>T	NP_001349447.1:p.Ala18Val
NM_001362519.1:c.53C>T	NP_001349448.1:p.Ala18Val
XM_017029242.2:c.497C>T	XP_016884731.1:p.Ala166Val
XM_017029246.1:c.53C>T	XP_016884735.1:p.Ala18Val
XM_024452331.1:c.53C>T	XP_024308099.1:p.Ala18Val
NM_000390.4:c.497C>T MANE Select	NP_000381.1:p.Ala166Val
NM_001362518.2:c.53C>T	NP_001349447.1:p.Ala18Val