Canonical Allele Identifier: CA10603696
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 279775
ClinVar RCV Id: RCV000320612 RCV001002947 RCV001074621
dbSNP Id: rs886041179
MyVariant Identifiers: chrX:g.85213886G>A (hg19) chrX:g.85958881G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85958881G>A , CM000685.2:g.85958881G>A GRCh38
NC_000023.10:g.85213886G>A , CM000685.1:g.85213886G>A GRCh37
NC_000023.9:g.85100542G>A NCBI36
NG_009874.2:g.93682C>T , LRG_699:g.93682C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.799C>T MANE Select ENSP00000350386.2:p.Arg267Ter
ENST00000357749.6:c.799C>T ENSP00000350386.2:p.Arg267Ter
ENST00000467744.2:n.126+68610C>T
NM_000390.2:c.799C>T , LRG_699t1:c.799C>T NP_000381.1:p.Arg267Ter
XM_006724615.2:c.736C>T XP_006724678.1:p.Arg246Ter
XM_011530839.1:c.355C>T XP_011529141.1:p.Arg119Ter
NM_000390.3:c.799C>T NP_000381.1:p.Arg267Ter
NM_001320959.1:c.355C>T NP_001307888.1:p.Arg119Ter
NM_001362517.1:c.355C>T NP_001349446.1:p.Arg119Ter
NM_001362518.1:c.355C>T NP_001349447.1:p.Arg119Ter
NM_001362519.1:c.355C>T NP_001349448.1:p.Arg119Ter
XM_017029242.2:c.799C>T XP_016884731.1:p.Arg267Ter
XM_017029246.1:c.355C>T XP_016884735.1:p.Arg119Ter
XM_024452331.1:c.355C>T XP_024308099.1:p.Arg119Ter
NM_000390.4:c.799C>T MANE Select NP_000381.1:p.Arg267Ter
NM_001362518.2:c.355C>T NP_001349447.1:p.Arg119Ter
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