Canonical Allele Identifier: CA392381966

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50254604C>G , CM000677.2:g.50254604C>G	GRCh38
NC_000015.9:g.50546801C>G , CM000677.1:g.50546801C>G	GRCh37
NC_000015.8:g.48334093C>G	NCBI36
NG_027487.1:g.16362G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.502G>C MANE Select	NP_002103.2:p.Glu168Gln
ENST00000267845.8:c.502G>C MANE Select	ENSP00000267845.3:p.Glu168Gln
NM_001306146.1:c.502G>C	NP_001293075.1:p.Glu168Gln
NM_001306146.2:c.502G>C	NP_001293075.1:p.Glu168Gln
NM_002112.3:c.502G>C	NP_002103.2:p.Glu168Gln
ENST00000267845.7:c.502G>C	ENSP00000267845.3:p.Glu168Gln
ENST00000543581.5:c.502G>C	ENSP00000440252.1:p.Glu168Gln
ENST00000558679.1:n.844G>C
ENST00000558761.5:n.368G>C
ENST00000559190.5:n.256G>C
ENST00000559683.1:c.484G>C	ENSP00000453183.1:p.Glu162Gln
XM_011521479.1:c.265G>C	XP_011519781.1:p.Glu89Gln
XM_011521480.1:c.70G>C	XP_011519782.1:p.Glu24Gln
XM_011521481.1:c.502G>C	XP_011519783.1:p.Glu168Gln
XM_017022094.1:c.502G>C	XP_016877583.1:p.Glu168Gln
XM_017022095.1:c.502G>C	XP_016877584.1:p.Glu168Gln
XM_017022096.1:c.274G>C	XP_016877585.1:p.Glu92Gln
XM_017022097.1:c.265G>C	XP_016877586.1:p.Glu89Gln
XM_017022098.1:c.70G>C	XP_016877587.1:p.Glu24Gln
XM_017022099.1:c.502G>C	XP_016877588.1:p.Glu168Gln