Canonical Allele Identifier: CA413785210
Gene: CHM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85956280T>C , CM000685.2:g.85956280T>C GRCh38
NC_000023.10:g.85211285T>C , CM000685.1:g.85211285T>C GRCh37
NC_000023.9:g.85097941T>C NCBI36
NG_009874.2:g.96283A>G , LRG_699:g.96283A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.1039A>G MANE Select ENSP00000350386.2:p.Thr347Ala
ENST00000357749.6:c.1039A>G ENSP00000350386.2:p.Thr347Ala
ENST00000467744.2:n.126+71211A>G
NM_000390.2:c.1039A>G , LRG_699t1:c.1039A>G NP_000381.1:p.Thr347Ala
XM_006724615.2:c.976A>G XP_006724678.1:p.Thr326Ala
XM_011530839.1:c.595A>G XP_011529141.1:p.Thr199Ala
NM_000390.3:c.1039A>G NP_000381.1:p.Thr347Ala
NM_001320959.1:c.595A>G NP_001307888.1:p.Thr199Ala
NM_001362517.1:c.595A>G NP_001349446.1:p.Thr199Ala
NM_001362518.1:c.595A>G NP_001349447.1:p.Thr199Ala
NM_001362519.1:c.595A>G NP_001349448.1:p.Thr199Ala
XM_017029242.2:c.1039A>G XP_016884731.1:p.Thr347Ala
XM_017029246.1:c.595A>G XP_016884735.1:p.Thr199Ala
XM_024452331.1:c.595A>G XP_024308099.1:p.Thr199Ala
NM_000390.4:c.1039A>G MANE Select NP_000381.1:p.Thr347Ala
NM_001362518.2:c.595A>G NP_001349447.1:p.Thr199Ala