Canonical Allele Identifier: CA2176326639
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242552G= , CM000677.2:g.50242552G= GRCh38
NC_000015.9:g.50534749G= , CM000677.1:g.50534749G= GRCh37
NC_000015.8:g.48322041G= NCBI36
NG_027487.1:g.28414C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1697C= MANE Select ENSP00000267845.3:p.Ser566=
ENST00000267845.7:c.1697C= ENSP00000267845.3:p.Ser566=
ENST00000543581.5:c.1598C= ENSP00000440252.1:p.Ser533=
ENST00000559816.1:n.1441C=
NM_001306146.1:c.1598C= NP_001293075.1:p.Ser533=
NM_002112.3:c.1697C= NP_002103.2:p.Ser566=
XM_011521479.1:c.1460C= XP_011519781.1:p.Ser487=
XM_011521480.1:c.1265C= XP_011519782.1:p.Ser422=
XM_017022094.1:c.1802C= XP_016877583.1:p.Ser601=
XM_017022095.1:c.1703C= XP_016877584.1:p.Ser568=
XM_017022096.1:c.1574C= XP_016877585.1:p.Ser525=
XM_017022097.1:c.1565C= XP_016877586.1:p.Ser522=
XM_017022098.1:c.1370C= XP_016877587.1:p.Ser457=
NM_002112.4:c.1697C= MANE Select NP_002103.2:p.Ser566=
NM_001306146.2:c.1598C= NP_001293075.1:p.Ser533=