Canonical Allele Identifier: CA255733
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 11149
ClinVar RCV Id: RCV000011899 RCV001092045
dbSNP Id: rs132630264
MyVariant Identifiers: chrX:g.85149219G>T (hg19) chrX:g.85894214G>T (hg38)
PubMed: PMID:1598901 PMID:9175730
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85894214G>T , CM000685.2:g.85894214G>T GRCh38
NC_000023.10:g.85149219G>T , CM000685.1:g.85149219G>T GRCh37
NC_000023.9:g.85035875G>T NCBI36
NG_009874.2:g.158349C>A , LRG_699:g.158349C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.1484C>A MANE Select ENSP00000350386.2:p.Ser495Ter
ENST00000357749.6:c.1484C>A ENSP00000350386.2:p.Ser495Ter
ENST00000467744.2:n.127-31120C>A
NM_000390.2:c.1484C>A , LRG_699t1:c.1484C>A NP_000381.1:p.Ser495Ter
XM_006724615.2:c.1421C>A XP_006724678.1:p.Ser474Ter
XM_011530839.1:c.1040C>A XP_011529141.1:p.Ser347Ter
NM_000390.3:c.1484C>A NP_000381.1:p.Ser495Ter
NM_001320959.1:c.1040C>A NP_001307888.1:p.Ser347Ter
NM_001362517.1:c.1040C>A NP_001349446.1:p.Ser347Ter
NM_001362518.1:c.1040C>A NP_001349447.1:p.Ser347Ter
NM_001362519.1:c.1040C>A NP_001349448.1:p.Ser347Ter
XM_017029242.2:c.1484C>A XP_016884731.1:p.Ser495Ter
XM_017029246.1:c.1040C>A XP_016884735.1:p.Ser347Ter
XM_024452331.1:c.1040C>A XP_024308099.1:p.Ser347Ter
NM_000390.4:c.1484C>A MANE Select NP_000381.1:p.Ser495Ter
NM_001362518.2:c.1040C>A NP_001349447.1:p.Ser347Ter
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