Canonical Allele Identifier: CA10465588

Gene: CHM

Linked Data

• dbSNP Id: rs755819577
• ExAC: X:85219022 G / A
• gnomAD v2: X-85219022-G-A
• gnomAD v4: X-85964017-G-A
• MyVariant Identifiers: chrX:g.85219022G>A (hg19) ; chrX:g.85964017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85964017G>A , CM000685.2:g.85964017G>A	GRCh38
NC_000023.10:g.85219022G>A , CM000685.1:g.85219022G>A	GRCh37
NC_000023.9:g.85105678G>A	NCBI36
NG_009874.2:g.88546C>T , LRG_699:g.88546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.350C>T MANE Select	ENSP00000350386.2:p.Ala117Val
ENST00000357749.6:c.350C>T	ENSP00000350386.2:p.Ala117Val
ENST00000467744.2:n.126+63474C>T
NM_000390.2:c.350C>T , LRG_699t1:c.350C>T	NP_000381.1:p.Ala117Val
XM_006724615.2:c.287C>T	XP_006724678.1:p.Ala96Val
XM_011530839.1:c.-95C>T	XP_011529141.1:n.-95C>T
NM_000390.3:c.350C>T	NP_000381.1:p.Ala117Val
NM_001320959.1:c.-95C>T	NP_001307888.1:n.-95C>T
NM_001362517.1:c.-95C>T	NP_001349446.1:n.-95C>T
NM_001362518.1:c.-95C>T	NP_001349447.1:n.-95C>T
NM_001362519.1:c.-95C>T	NP_001349448.1:n.-95C>T
XM_017029242.2:c.350C>T	XP_016884731.1:p.Ala117Val
XM_017029246.1:c.-95C>T	XP_016884735.1:n.-95C>T
XM_024452331.1:c.-95C>T	XP_024308099.1:n.-95C>T
NM_000390.4:c.350C>T MANE Select	NP_000381.1:p.Ala117Val
NM_001362518.2:c.-95C>T	NP_001349447.1:n.-95C>T