Canonical Allele Identifier: CA2176326646
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242567G= , CM000677.2:g.50242567G= GRCh38
NC_000015.9:g.50534764G= , CM000677.1:g.50534764G= GRCh37
NC_000015.8:g.48322056G= NCBI36
NG_027487.1:g.28399C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1682C= MANE Select ENSP00000267845.3:p.Thr561=
ENST00000267845.7:c.1682C= ENSP00000267845.3:p.Thr561=
ENST00000543581.5:c.1583C= ENSP00000440252.1:p.Thr528=
ENST00000559816.1:n.1426C=
NM_001306146.1:c.1583C= NP_001293075.1:p.Thr528=
NM_002112.3:c.1682C= NP_002103.2:p.Thr561=
XM_011521479.1:c.1445C= XP_011519781.1:p.Thr482=
XM_011521480.1:c.1250C= XP_011519782.1:p.Thr417=
XM_017022094.1:c.1787C= XP_016877583.1:p.Thr596=
XM_017022095.1:c.1688C= XP_016877584.1:p.Thr563=
XM_017022096.1:c.1559C= XP_016877585.1:p.Thr520=
XM_017022097.1:c.1550C= XP_016877586.1:p.Thr517=
XM_017022098.1:c.1355C= XP_016877587.1:p.Thr452=
NM_002112.4:c.1682C= MANE Select NP_002103.2:p.Thr561=
NM_001306146.2:c.1583C= NP_001293075.1:p.Thr528=