Canonical Allele Identifier: CA2176326606
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242464C= , CM000677.2:g.50242464C= GRCh38
NC_000015.9:g.50534661C= , CM000677.1:g.50534661C= GRCh37
NC_000015.8:g.48321953C= NCBI36
NG_027487.1:g.28502G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1785G= MANE Select ENSP00000267845.3:p.Gln595=
ENST00000267845.7:c.1785G= ENSP00000267845.3:p.Gln595=
ENST00000543581.5:c.1686G= ENSP00000440252.1:p.Gln562=
ENST00000559816.1:n.1529G=
NM_001306146.1:c.1686G= NP_001293075.1:p.Gln562=
NM_002112.3:c.1785G= NP_002103.2:p.Gln595=
XM_011521479.1:c.1548G= XP_011519781.1:p.Gln516=
XM_011521480.1:c.1353G= XP_011519782.1:p.Gln451=
XM_017022094.1:c.1890G= XP_016877583.1:p.Gln630=
XM_017022095.1:c.1791G= XP_016877584.1:p.Gln597=
XM_017022096.1:c.1662G= XP_016877585.1:p.Gln554=
XM_017022097.1:c.1653G= XP_016877586.1:p.Gln551=
XM_017022098.1:c.1458G= XP_016877587.1:p.Gln486=
NM_002112.4:c.1785G= MANE Select NP_002103.2:p.Gln595=
NM_001306146.2:c.1686G= NP_001293075.1:p.Gln562=