Canonical Allele Identifier: CA354081054

Gene: HGD

Linked Data

• dbSNP Id: rs1708000236
• MyVariant Identifiers: chr3:g.120389284T>A (hg19) ; chr3:g.120670437T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670437T>A , CM000665.2:g.120670437T>A	GRCh38
NC_000003.11:g.120389284T>A , CM000665.1:g.120389284T>A	GRCh37
NC_000003.10:g.121871974T>A	NCBI36
NG_011957.1:g.17045A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.272A>T MANE Select	ENSP00000283871.5:p.Asp91Val
ENST00000283871.9:c.272A>T	ENSP00000283871.5:p.Asp91Val
ENST00000466528.5:n.298A>T
ENST00000476082.2:c.149A>T	ENSP00000419560.2:p.Asp50Val
ENST00000485313.5:n.380A>T
ENST00000488183.5:n.530A>T
NM_000187.3:c.272A>T	NP_000178.2:p.Asp91Val
XM_005247412.1:c.272A>T	XP_005247469.1:p.Asp91Val
XM_005247413.1:c.272A>T	XP_005247470.1:p.Asp91Val
XM_005247414.3:c.272A>T	XP_005247471.1:p.Asp91Val
XM_011512746.1:c.272A>T	XP_011511048.1:p.Asp91Val
XM_005247412.2:c.272A>T	XP_005247469.1:p.Asp91Val
XM_005247413.2:c.272A>T	XP_005247470.1:p.Asp91Val
XM_005247414.5:c.272A>T	XP_005247471.1:p.Asp91Val
XM_011512746.2:c.272A>T	XP_011511048.1:p.Asp91Val
XM_017006277.2:c.-152A>T	XP_016861766.1:n.-152A>T
NM_000187.4:c.272A>T MANE Select	NP_000178.2:p.Asp91Val