Canonical Allele Identifier: CA16043335
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 372321
ClinVar RCV Id: RCV000414588
dbSNP Id: rs1057517714

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85956300G>T , CM000685.2:g.85956300G>T GRCh38
NC_000023.10:g.85211305G>T , CM000685.1:g.85211305G>T GRCh37
NC_000023.9:g.85097961G>T NCBI36
NG_009874.2:g.96263C>A , LRG_699:g.96263C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.6:c.1019C>A ENSP00000350386.2:p.Ser340Ter
NM_000390.2:c.1019C>A , LRG_699t1:c.1019C>A NP_000381.1:p.Ser340Ter
XM_006724615.2:c.956C>A XP_006724678.1:p.Ser319Ter
XM_011530839.1:c.575C>A XP_011529141.1:p.Ser192Ter
NM_000390.3:c.1019C>A NP_000381.1:p.Ser340Ter
NM_001320959.1:c.575C>A NP_001307888.1:p.Ser192Ter
NM_001362517.1:c.575C>A NP_001349446.1:p.Ser192Ter
NM_001362518.1:c.575C>A NP_001349447.1:p.Ser192Ter
NM_001362519.1:c.575C>A NP_001349448.1:p.Ser192Ter
XM_017029242.2:c.1019C>A XP_016884731.1:p.Ser340Ter
XM_017029246.1:c.575C>A XP_016884735.1:p.Ser192Ter
XM_024452331.1:c.575C>A XP_024308099.1:p.Ser192Ter
NM_000390.4:c.1019C>A MANE Select NP_000381.1:p.Ser340Ter
NM_001362518.2:c.575C>A NP_001349447.1:p.Ser192Ter