Canonical Allele Identifier: CA10603740
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 279776
ClinVar RCV Id: RCV000379861
dbSNP Id: rs886041180
MyVariant Identifiers: chrX:g.85211355A>T (hg19) chrX:g.85956350A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85956350A>T , CM000685.2:g.85956350A>T GRCh38
NC_000023.10:g.85211355A>T , CM000685.1:g.85211355A>T GRCh37
NC_000023.9:g.85098011A>T NCBI36
NG_009874.2:g.96213T>A , LRG_699:g.96213T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.969T>A MANE Select ENSP00000350386.2:p.Tyr323Ter
ENST00000357749.6:c.969T>A ENSP00000350386.2:p.Tyr323Ter
ENST00000467744.2:n.126+71141T>A
NM_000390.2:c.969T>A , LRG_699t1:c.969T>A NP_000381.1:p.Tyr323Ter
XM_006724615.2:c.906T>A XP_006724678.1:p.Tyr302Ter
XM_011530839.1:c.525T>A XP_011529141.1:p.Tyr175Ter
NM_000390.3:c.969T>A NP_000381.1:p.Tyr323Ter
NM_001320959.1:c.525T>A NP_001307888.1:p.Tyr175Ter
NM_001362517.1:c.525T>A NP_001349446.1:p.Tyr175Ter
NM_001362518.1:c.525T>A NP_001349447.1:p.Tyr175Ter
NM_001362519.1:c.525T>A NP_001349448.1:p.Tyr175Ter
XM_017029242.2:c.969T>A XP_016884731.1:p.Tyr323Ter
XM_017029246.1:c.525T>A XP_016884735.1:p.Tyr175Ter
XM_024452331.1:c.525T>A XP_024308099.1:p.Tyr175Ter
NM_000390.4:c.969T>A MANE Select NP_000381.1:p.Tyr323Ter
NM_001362518.2:c.525T>A NP_001349447.1:p.Tyr175Ter
Search 100 bp 5'
Search 100 bp 3'