Canonical Allele Identifier: CA354073852

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120360438C>T (hg19) ; chr3:g.120641591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641591C>T , CM000665.2:g.120641591C>T	GRCh38
NC_000003.11:g.120360438C>T , CM000665.1:g.120360438C>T	GRCh37
NC_000003.10:g.121843128C>T	NCBI36
NG_011957.1:g.45891G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.877G>A MANE Select	ENSP00000283871.5:p.Ala293Thr
ENST00000283871.9:c.877G>A	ENSP00000283871.5:p.Ala293Thr
ENST00000470321.1:n.217G>A
ENST00000475447.2:c.305G>A
ENST00000492108.5:c.283G>A	ENSP00000419838.1:p.Ala95Thr
ENST00000494453.1:c.297G>A
NM_000187.3:c.877G>A	NP_000178.2:p.Ala293Thr
XM_005247412.1:c.652G>A	XP_005247469.1:p.Ala218Thr
XM_005247413.1:c.877G>A	XP_005247470.1:p.Ala293Thr
XM_011512746.1:c.877G>A	XP_011511048.1:p.Ala293Thr
XM_005247412.2:c.652G>A	XP_005247469.1:p.Ala218Thr
XM_005247413.2:c.877G>A	XP_005247470.1:p.Ala293Thr
XM_011512746.2:c.877G>A	XP_011511048.1:p.Ala293Thr
XM_017006277.2:c.454G>A	XP_016861766.1:p.Ala152Thr
NM_000187.4:c.877G>A MANE Select	NP_000178.2:p.Ala293Thr