Canonical Allele Identifier: CA490066051

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50252749G>A , CM000677.2:g.50252749G>A	GRCh38
NC_000015.9:g.50544946G>A , CM000677.1:g.50544946G>A	GRCh37
NC_000015.8:g.48332238G>A	NCBI36
NG_027487.1:g.18217C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.813C>T MANE Select	NP_002103.2:p.His271=
ENST00000267845.8:c.813C>T MANE Select	ENSP00000267845.3:p.His271=
NM_001306146.1:c.813C>T	NP_001293075.1:p.His271=
NM_001306146.2:c.813C>T	NP_001293075.1:p.His271=
NM_002112.3:c.813C>T	NP_002103.2:p.His271=
ENST00000267845.7:c.813C>T	ENSP00000267845.3:p.His271=
ENST00000543581.5:c.813C>T	ENSP00000440252.1:p.His271=
ENST00000559816.1:n.557C>T
XM_011521479.1:c.576C>T	XP_011519781.1:p.His192=
XM_011521480.1:c.381C>T	XP_011519782.1:p.His127=
XM_011521481.1:c.813C>T	XP_011519783.1:p.His271=
XM_017022094.1:c.918C>T	XP_016877583.1:p.His306=
XM_017022095.1:c.918C>T	XP_016877584.1:p.His306=
XM_017022096.1:c.690C>T	XP_016877585.1:p.His230=
XM_017022097.1:c.681C>T	XP_016877586.1:p.His227=
XM_017022098.1:c.486C>T	XP_016877587.1:p.His162=
XM_017022099.1:c.918C>T	XP_016877588.1:p.His306=