Canonical Allele Identifier: CA10465535
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 285756
dbSNP Id: rs776256380

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85958965G>A , CM000685.2:g.85958965G>A GRCh38
NC_000023.10:g.85213970G>A , CM000685.1:g.85213970G>A GRCh37
NC_000023.9:g.85100626G>A NCBI36
NG_009874.2:g.93598C>T , LRG_699:g.93598C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.715C>T MANE Select ENSP00000350386.2:p.Arg239Ter
ENST00000357749.6:c.715C>T ENSP00000350386.2:p.Arg239Ter
ENST00000467744.2:n.126+68526C>T
NM_000390.2:c.715C>T , LRG_699t1:c.715C>T NP_000381.1:p.Arg239Ter
XM_006724615.2:c.652C>T XP_006724678.1:p.Arg218Ter
XM_011530839.1:c.271C>T XP_011529141.1:p.Arg91Ter
NM_000390.3:c.715C>T NP_000381.1:p.Arg239Ter
NM_001320959.1:c.271C>T NP_001307888.1:p.Arg91Ter
NM_001362517.1:c.271C>T NP_001349446.1:p.Arg91Ter
NM_001362518.1:c.271C>T NP_001349447.1:p.Arg91Ter
NM_001362519.1:c.271C>T NP_001349448.1:p.Arg91Ter
XM_017029242.2:c.715C>T XP_016884731.1:p.Arg239Ter
XM_017029246.1:c.271C>T XP_016884735.1:p.Arg91Ter
XM_024452331.1:c.271C>T XP_024308099.1:p.Arg91Ter
NM_000390.4:c.715C>T MANE Select NP_000381.1:p.Arg239Ter
NM_001362518.2:c.271C>T NP_001349447.1:p.Arg91Ter