Canonical Allele Identifier: CA392377036
Gene: HDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242444G>C , CM000677.2:g.50242444G>C GRCh38
NC_000015.9:g.50534641G>C , CM000677.1:g.50534641G>C GRCh37
NC_000015.8:g.48321933G>C NCBI36
NG_027487.1:g.28522C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1805C>G MANE Select ENSP00000267845.3:p.Ala602Gly
ENST00000267845.7:c.1805C>G ENSP00000267845.3:p.Ala602Gly
ENST00000543581.5:c.1706C>G ENSP00000440252.1:p.Ala569Gly
ENST00000559816.1:n.1549C>G
NM_001306146.1:c.1706C>G NP_001293075.1:p.Ala569Gly
NM_002112.3:c.1805C>G NP_002103.2:p.Ala602Gly
XM_011521479.1:c.1568C>G XP_011519781.1:p.Ala523Gly
XM_011521480.1:c.1373C>G XP_011519782.1:p.Ala458Gly
XM_017022094.1:c.1910C>G XP_016877583.1:p.Ala637Gly
XM_017022095.1:c.1811C>G XP_016877584.1:p.Ala604Gly
XM_017022096.1:c.1682C>G XP_016877585.1:p.Ala561Gly
XM_017022097.1:c.1673C>G XP_016877586.1:p.Ala558Gly
XM_017022098.1:c.1478C>G XP_016877587.1:p.Ala493Gly
NM_002112.4:c.1805C>G MANE Select NP_002103.2:p.Ala602Gly
NM_001306146.2:c.1706C>G NP_001293075.1:p.Ala569Gly