Canonical Allele Identifier: CA392376437
Gene: HDC HGNC NCBI

Linked Data

dbSNP Id: rs1190882769

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242286A>C , CM000677.2:g.50242286A>C GRCh38
NC_000015.9:g.50534483A>C , CM000677.1:g.50534483A>C GRCh37
NC_000015.8:g.48321775A>C NCBI36
NG_027487.1:g.28680T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1963T>G MANE Select ENSP00000267845.3:p.Cys655Gly
ENST00000267845.7:c.1963T>G ENSP00000267845.3:p.Cys655Gly
ENST00000543581.5:c.1864T>G ENSP00000440252.1:p.Cys622Gly
ENST00000559816.1:n.1707T>G
NM_001306146.1:c.1864T>G NP_001293075.1:p.Cys622Gly
NM_002112.3:c.1963T>G NP_002103.2:p.Cys655Gly
XM_011521479.1:c.1726T>G XP_011519781.1:p.Cys576Gly
XM_011521480.1:c.1531T>G XP_011519782.1:p.Cys511Gly
XM_017022094.1:c.2068T>G XP_016877583.1:p.Cys690Gly
XM_017022095.1:c.1969T>G XP_016877584.1:p.Cys657Gly
XM_017022096.1:c.1840T>G XP_016877585.1:p.Cys614Gly
XM_017022097.1:c.1831T>G XP_016877586.1:p.Cys611Gly
XM_017022098.1:c.1636T>G XP_016877587.1:p.Cys546Gly
NM_002112.4:c.1963T>G MANE Select NP_002103.2:p.Cys655Gly
NM_001306146.2:c.1864T>G NP_001293075.1:p.Cys622Gly