Canonical Allele Identifier: CA270018
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 143078
ClinVar RCV Id: RCV000132595 RCV000519231 RCV003888542
dbSNP Id: rs527236048
MyVariant Identifiers: chrX:g.85213877G>A (hg19) chrX:g.85958872G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85958872G>A , CM000685.2:g.85958872G>A GRCh38
NC_000023.10:g.85213877G>A , CM000685.1:g.85213877G>A GRCh37
NC_000023.9:g.85100533G>A NCBI36
NG_009874.2:g.93691C>T , LRG_699:g.93691C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.808C>T MANE Select ENSP00000350386.2:p.Arg270Ter
ENST00000357749.6:c.808C>T ENSP00000350386.2:p.Arg270Ter
ENST00000467744.2:n.126+68619C>T
NM_000390.2:c.808C>T , LRG_699t1:c.808C>T NP_000381.1:p.Arg270Ter
XM_006724615.2:c.745C>T XP_006724678.1:p.Arg249Ter
XM_011530839.1:c.364C>T XP_011529141.1:p.Arg122Ter
NM_000390.3:c.808C>T NP_000381.1:p.Arg270Ter
NM_001320959.1:c.364C>T NP_001307888.1:p.Arg122Ter
NM_001362517.1:c.364C>T NP_001349446.1:p.Arg122Ter
NM_001362518.1:c.364C>T NP_001349447.1:p.Arg122Ter
NM_001362519.1:c.364C>T NP_001349448.1:p.Arg122Ter
XM_017029242.2:c.808C>T XP_016884731.1:p.Arg270Ter
XM_017029246.1:c.364C>T XP_016884735.1:p.Arg122Ter
XM_024452331.1:c.364C>T XP_024308099.1:p.Arg122Ter
NM_000390.4:c.808C>T MANE Select NP_000381.1:p.Arg270Ter
NM_001362518.2:c.364C>T NP_001349447.1:p.Arg122Ter
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