Canonical Allele Identifier: CA2176326582
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242411C= , CM000677.2:g.50242411C= GRCh38
NC_000015.9:g.50534608C= , CM000677.1:g.50534608C= GRCh37
NC_000015.8:g.48321900C= NCBI36
NG_027487.1:g.28555G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1838G= MANE Select ENSP00000267845.3:p.Arg613=
ENST00000267845.7:c.1838G= ENSP00000267845.3:p.Arg613=
ENST00000543581.5:c.1739G= ENSP00000440252.1:p.Arg580=
ENST00000559816.1:n.1582G=
NM_001306146.1:c.1739G= NP_001293075.1:p.Arg580=
NM_002112.3:c.1838G= NP_002103.2:p.Arg613=
XM_011521479.1:c.1601G= XP_011519781.1:p.Arg534=
XM_011521480.1:c.1406G= XP_011519782.1:p.Arg469=
XM_017022094.1:c.1943G= XP_016877583.1:p.Arg648=
XM_017022095.1:c.1844G= XP_016877584.1:p.Arg615=
XM_017022096.1:c.1715G= XP_016877585.1:p.Arg572=
XM_017022097.1:c.1706G= XP_016877586.1:p.Arg569=
XM_017022098.1:c.1511G= XP_016877587.1:p.Arg504=
NM_002112.4:c.1838G= MANE Select NP_002103.2:p.Arg613=
NM_001306146.2:c.1739G= NP_001293075.1:p.Arg580=