Canonical Allele Identifier: CA392381842

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50254546G>A , CM000677.2:g.50254546G>A	GRCh38
NC_000015.9:g.50546743G>A , CM000677.1:g.50546743G>A	GRCh37
NC_000015.8:g.48334035G>A	NCBI36
NG_027487.1:g.16420C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.560C>T MANE Select	NP_002103.2:p.Ala187Val
ENST00000267845.8:c.560C>T MANE Select	ENSP00000267845.3:p.Ala187Val
NM_001306146.1:c.560C>T	NP_001293075.1:p.Ala187Val
NM_001306146.2:c.560C>T	NP_001293075.1:p.Ala187Val
NM_002112.3:c.560C>T	NP_002103.2:p.Ala187Val
ENST00000267845.7:c.560C>T	ENSP00000267845.3:p.Ala187Val
ENST00000543581.5:c.560C>T	ENSP00000440252.1:p.Ala187Val
ENST00000558679.1:n.902C>T
ENST00000558761.5:n.426C>T
ENST00000559190.5:n.314C>T
XM_011521479.1:c.323C>T	XP_011519781.1:p.Ala108Val
XM_011521480.1:c.128C>T	XP_011519782.1:p.Ala43Val
XM_011521481.1:c.560C>T	XP_011519783.1:p.Ala187Val
XM_017022094.1:c.560C>T	XP_016877583.1:p.Ala187Val
XM_017022095.1:c.560C>T	XP_016877584.1:p.Ala187Val
XM_017022096.1:c.332C>T	XP_016877585.1:p.Ala111Val
XM_017022097.1:c.323C>T	XP_016877586.1:p.Ala108Val
XM_017022098.1:c.128C>T	XP_016877587.1:p.Ala43Val
XM_017022099.1:c.560C>T	XP_016877588.1:p.Ala187Val