Canonical Allele Identifier: CA10603639
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 279777
ClinVar RCV Id: RCV000285432
dbSNP Id: rs886041181
MyVariant Identifiers: chrX:g.85211186G>A (hg19) chrX:g.85956181G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85956181G>A , CM000685.2:g.85956181G>A GRCh38
NC_000023.10:g.85211186G>A , CM000685.1:g.85211186G>A GRCh37
NC_000023.9:g.85097842G>A NCBI36
NG_009874.2:g.96382C>T , LRG_699:g.96382C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.1138C>T MANE Select ENSP00000350386.2:p.Gln380Ter
ENST00000357749.6:c.1138C>T ENSP00000350386.2:p.Gln380Ter
ENST00000467744.2:n.126+71310C>T
NM_000390.2:c.1138C>T , LRG_699t1:c.1138C>T NP_000381.1:p.Gln380Ter
XM_006724615.2:c.1075C>T XP_006724678.1:p.Gln359Ter
XM_011530839.1:c.694C>T XP_011529141.1:p.Gln232Ter
NM_000390.3:c.1138C>T NP_000381.1:p.Gln380Ter
NM_001320959.1:c.694C>T NP_001307888.1:p.Gln232Ter
NM_001362517.1:c.694C>T NP_001349446.1:p.Gln232Ter
NM_001362518.1:c.694C>T NP_001349447.1:p.Gln232Ter
NM_001362519.1:c.694C>T NP_001349448.1:p.Gln232Ter
XM_017029242.2:c.1138C>T XP_016884731.1:p.Gln380Ter
XM_017029246.1:c.694C>T XP_016884735.1:p.Gln232Ter
XM_024452331.1:c.694C>T XP_024308099.1:p.Gln232Ter
NM_000390.4:c.1138C>T MANE Select NP_000381.1:p.Gln380Ter
NM_001362518.2:c.694C>T NP_001349447.1:p.Gln232Ter
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