Canonical Allele Identifier: CA255736
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 11150
ClinVar RCV Id: RCV000011900
dbSNP Id: rs132630265
MyVariant Identifiers: chrX:g.85149232C>A (hg19) chrX:g.85894227C>A (hg38)
PubMed: PMID:1598901 PMID:9175730
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85894227C>A , CM000685.2:g.85894227C>A GRCh38
NC_000023.10:g.85149232C>A , CM000685.1:g.85149232C>A GRCh37
NC_000023.9:g.85035888C>A NCBI36
NG_009874.2:g.158336G>T , LRG_699:g.158336G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.1471G>T MANE Select ENSP00000350386.2:p.Glu491Ter
ENST00000357749.6:c.1471G>T ENSP00000350386.2:p.Glu491Ter
ENST00000467744.2:n.127-31133G>T
NM_000390.2:c.1471G>T , LRG_699t1:c.1471G>T NP_000381.1:p.Glu491Ter
XM_006724615.2:c.1408G>T XP_006724678.1:p.Glu470Ter
XM_011530839.1:c.1027G>T XP_011529141.1:p.Glu343Ter
NM_000390.3:c.1471G>T NP_000381.1:p.Glu491Ter
NM_001320959.1:c.1027G>T NP_001307888.1:p.Glu343Ter
NM_001362517.1:c.1027G>T NP_001349446.1:p.Glu343Ter
NM_001362518.1:c.1027G>T NP_001349447.1:p.Glu343Ter
NM_001362519.1:c.1027G>T NP_001349448.1:p.Glu343Ter
XM_017029242.2:c.1471G>T XP_016884731.1:p.Glu491Ter
XM_017029246.1:c.1027G>T XP_016884735.1:p.Glu343Ter
XM_024452331.1:c.1027G>T XP_024308099.1:p.Glu343Ter
NM_000390.4:c.1471G>T MANE Select NP_000381.1:p.Glu491Ter
NM_001362518.2:c.1027G>T NP_001349447.1:p.Glu343Ter
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