Canonical Allele Identifier: CA435227567

Gene: HGD

Linked Data

• dbSNP Id: rs754428438
• gnomAD v2: 3-120360442-G-A
• gnomAD v4: 3-120641595-G-A
• MyVariant Identifiers: chr3:g.120360442G>A (hg19) ; chr3:g.120641595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641595G>A , CM000665.2:g.120641595G>A	GRCh38
NC_000003.11:g.120360442G>A , CM000665.1:g.120360442G>A	GRCh37
NC_000003.10:g.121843132G>A	NCBI36
NG_011957.1:g.45887C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.873C>T MANE Select	ENSP00000283871.5:p.Asp291=
ENST00000283871.9:c.873C>T	ENSP00000283871.5:p.Asp291=
ENST00000470321.1:n.213C>T
ENST00000475447.2:c.301C>T
ENST00000492108.5:c.279C>T	ENSP00000419838.1:p.Asp93=
ENST00000494453.1:c.293C>T
NM_000187.3:c.873C>T	NP_000178.2:p.Asp291=
XM_005247412.1:c.648C>T	XP_005247469.1:p.Asp216=
XM_005247413.1:c.873C>T	XP_005247470.1:p.Asp291=
XM_011512746.1:c.873C>T	XP_011511048.1:p.Asp291=
XM_005247412.2:c.648C>T	XP_005247469.1:p.Asp216=
XM_005247413.2:c.873C>T	XP_005247470.1:p.Asp291=
XM_011512746.2:c.873C>T	XP_011511048.1:p.Asp291=
XM_017006277.2:c.450C>T	XP_016861766.1:p.Asp150=
NM_000187.4:c.873C>T MANE Select	NP_000178.2:p.Asp291=