Canonical Allele Identifier: CA435227491

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120357390G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638543G>T , CM000665.2:g.120638543G>T	GRCh38
NC_000003.11:g.120357390G>T , CM000665.1:g.120357390G>T	GRCh37
NC_000003.10:g.121840080G>T	NCBI36
NG_011957.1:g.48939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.918C>A MANE Select	ENSP00000283871.5:p.Val306=
ENST00000283871.9:c.918C>A	ENSP00000283871.5:p.Val306=
ENST00000470321.1:n.258C>A
ENST00000475447.2:c.307+3046C>A
ENST00000492108.5:c.285+3046C>A	ENSP00000419838.1:n.285+3046C>A
ENST00000494453.1:c.338C>A
NM_000187.3:c.918C>A	NP_000178.2:p.Val306=
XM_005247412.1:c.693C>A	XP_005247469.1:p.Val231=
XM_005247413.1:c.918C>A	XP_005247470.1:p.Val306=
XM_011512746.1:c.879+3046C>A	XP_011511048.1:n.879+3046C>A
XM_005247412.2:c.693C>A	XP_005247469.1:p.Val231=
XM_005247413.2:c.918C>A	XP_005247470.1:p.Val306=
XM_011512746.2:c.879+3046C>A	XP_011511048.1:n.879+3046C>A
XM_017006277.2:c.495C>A	XP_016861766.1:p.Val165=
NM_000187.4:c.918C>A MANE Select	NP_000178.2:p.Val306=