Canonical Allele Identifier: CA16042050
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 370141
ClinVar RCV Id: RCV000412301
dbSNP Id: rs1057516265
MyVariant Identifiers: chrX:g.85302536T>C (hg19) chrX:g.86047532T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.86047532T>C , CM000685.2:g.86047532T>C GRCh38
NC_000023.10:g.85302536T>C , CM000685.1:g.85302536T>C GRCh37
NC_000023.9:g.85189192T>C NCBI36
NG_009874.2:g.5031A>G , LRG_699:g.5031A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.1A>G MANE Select ENSP00000350386.2:p.Met1Val
ENST00000357749.6:c.1A>G ENSP00000350386.2:p.Met1Val
ENST00000483950.1:n.30A>G
ENST00000615443.1:c.1A>G ENSP00000484306.1:p.Met1Val
NM_000390.2:c.1A>G , LRG_699t1:c.1A>G NP_000381.1:p.Met1Val
NM_001145414.2:c.1A>G , LRG_699t2:c.1A>G NP_001138886.1:p.Met1Val
NM_000390.3:c.1A>G NP_000381.1:p.Met1Val
NM_001145414.3:c.1A>G NP_001138886.1:p.Met1Val
XM_017029242.2:c.1A>G XP_016884731.1:p.Met1Val
XM_017029246.1:c.-440A>G XP_016884735.1:n.-440A>G
NM_000390.4:c.1A>G MANE Select NP_000381.1:p.Met1Val
NM_001145414.4:c.1A>G NP_001138886.1:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'