Canonical Allele Identifier: CA2176326577
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242402G= , CM000677.2:g.50242402G= GRCh38
NC_000015.9:g.50534599G= , CM000677.1:g.50534599G= GRCh37
NC_000015.8:g.48321891G= NCBI36
NG_027487.1:g.28564C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1847C= MANE Select ENSP00000267845.3:p.Ser616=
ENST00000267845.7:c.1847C= ENSP00000267845.3:p.Ser616=
ENST00000543581.5:c.1748C= ENSP00000440252.1:p.Ser583=
ENST00000559816.1:n.1591C=
NM_001306146.1:c.1748C= NP_001293075.1:p.Ser583=
NM_002112.3:c.1847C= NP_002103.2:p.Ser616=
XM_011521479.1:c.1610C= XP_011519781.1:p.Ser537=
XM_011521480.1:c.1415C= XP_011519782.1:p.Ser472=
XM_017022094.1:c.1952C= XP_016877583.1:p.Ser651=
XM_017022095.1:c.1853C= XP_016877584.1:p.Ser618=
XM_017022096.1:c.1724C= XP_016877585.1:p.Ser575=
XM_017022097.1:c.1715C= XP_016877586.1:p.Ser572=
XM_017022098.1:c.1520C= XP_016877587.1:p.Ser507=
NM_002112.4:c.1847C= MANE Select NP_002103.2:p.Ser616=
NM_001306146.2:c.1748C= NP_001293075.1:p.Ser583=