Canonical Allele Identifier: CA354073543

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638515C>T , CM000665.2:g.120638515C>T	GRCh38
NC_000003.11:g.120357362C>T , CM000665.1:g.120357362C>T	GRCh37
NC_000003.10:g.121840052C>T	NCBI36
NG_011957.1:g.48967G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.946G>A MANE Select	NP_000178.2:p.Val316Ile
ENST00000283871.10:c.946G>A MANE Select	ENSP00000283871.5:p.Val316Ile
NM_000187.3:c.946G>A	NP_000178.2:p.Val316Ile
ENST00000283871.9:c.946G>A	ENSP00000283871.5:p.Val316Ile
ENST00000470321.1:n.286G>A
ENST00000475447.2:c.307+3074G>A
ENST00000492108.5:c.285+3074G>A	ENSP00000419838.1:n.285+3074G>A
ENST00000494453.1:c.366G>A
XM_005247412.1:c.721G>A	XP_005247469.1:p.Val241Ile
XM_005247412.2:c.721G>A	XP_005247469.1:p.Val241Ile
XM_005247413.1:c.946G>A	XP_005247470.1:p.Val316Ile
XM_005247413.2:c.946G>A	XP_005247470.1:p.Val316Ile
XM_011512746.1:c.879+3074G>A	XP_011511048.1:n.879+3074G>A
XM_011512746.2:c.879+3074G>A	XP_011511048.1:n.879+3074G>A
XM_017006277.2:c.523G>A	XP_016861766.1:p.Val175Ile