Canonical Allele Identifier: CA10465527
Gene: CHM HGNC NCBI

Linked Data

dbSNP Id: rs745997358
gnomAD v2: X-85213879-C-G
gnomAD v4: X-85958874-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85958874C>G , CM000685.2:g.85958874C>G GRCh38
NC_000023.10:g.85213879C>G , CM000685.1:g.85213879C>G GRCh37
NC_000023.9:g.85100535C>G NCBI36
NG_009874.2:g.93689G>C , LRG_699:g.93689G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.806G>C MANE Select ENSP00000350386.2:p.Gly269Ala
ENST00000357749.6:c.806G>C ENSP00000350386.2:p.Gly269Ala
ENST00000467744.2:n.126+68617G>C
NM_000390.2:c.806G>C , LRG_699t1:c.806G>C NP_000381.1:p.Gly269Ala
XM_006724615.2:c.743G>C XP_006724678.1:p.Gly248Ala
XM_011530839.1:c.362G>C XP_011529141.1:p.Gly121Ala
NM_000390.3:c.806G>C NP_000381.1:p.Gly269Ala
NM_001320959.1:c.362G>C NP_001307888.1:p.Gly121Ala
NM_001362517.1:c.362G>C NP_001349446.1:p.Gly121Ala
NM_001362518.1:c.362G>C NP_001349447.1:p.Gly121Ala
NM_001362519.1:c.362G>C NP_001349448.1:p.Gly121Ala
XM_017029242.2:c.806G>C XP_016884731.1:p.Gly269Ala
XM_017029246.1:c.362G>C XP_016884735.1:p.Gly121Ala
XM_024452331.1:c.362G>C XP_024308099.1:p.Gly121Ala
NM_000390.4:c.806G>C MANE Select NP_000381.1:p.Gly269Ala
NM_001362518.2:c.362G>C NP_001349447.1:p.Gly121Ala