Canonical Allele Identifier: CA354081171

Gene: HGD

Linked Data

• COSMIC: COSM3914654
• MyVariant Identifiers: chr3:g.120389297C>T (hg19) ; chr3:g.120670450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670450C>T , CM000665.2:g.120670450C>T	GRCh38
NC_000003.11:g.120389297C>T , CM000665.1:g.120389297C>T	GRCh37
NC_000003.10:g.121871987C>T	NCBI36
NG_011957.1:g.17032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.259G>A MANE Select	ENSP00000283871.5:p.Glu87Lys
ENST00000283871.9:c.259G>A	ENSP00000283871.5:p.Glu87Lys
ENST00000466528.5:n.285G>A
ENST00000476082.2:c.136G>A	ENSP00000419560.2:p.Glu46Lys
ENST00000485313.5:n.367G>A
ENST00000488183.5:n.517G>A
NM_000187.3:c.259G>A	NP_000178.2:p.Glu87Lys
XM_005247412.1:c.259G>A	XP_005247469.1:p.Glu87Lys
XM_005247413.1:c.259G>A	XP_005247470.1:p.Glu87Lys
XM_005247414.3:c.259G>A	XP_005247471.1:p.Glu87Lys
XM_011512746.1:c.259G>A	XP_011511048.1:p.Glu87Lys
XM_005247412.2:c.259G>A	XP_005247469.1:p.Glu87Lys
XM_005247413.2:c.259G>A	XP_005247470.1:p.Glu87Lys
XM_005247414.5:c.259G>A	XP_005247471.1:p.Glu87Lys
XM_011512746.2:c.259G>A	XP_011511048.1:p.Glu87Lys
XM_017006277.2:c.-165G>A	XP_016861766.1:n.-165G>A
NM_000187.4:c.259G>A MANE Select	NP_000178.2:p.Glu87Lys