Canonical Allele Identifier: CA2560012

Gene: HGD

Linked Data

• dbSNP Id: rs754050823
• ExAC: 3:120357364 A / T
• gnomAD v2: 3-120357364-A-T
• gnomAD v4: 3-120638517-A-T
• MyVariant Identifiers: chr3:g.120357364A>T (hg19) ; chr3:g.120638517A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638517A>T , CM000665.2:g.120638517A>T	GRCh38
NC_000003.11:g.120357364A>T , CM000665.1:g.120357364A>T	GRCh37
NC_000003.10:g.121840054A>T	NCBI36
NG_011957.1:g.48965T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.944T>A MANE Select	ENSP00000283871.5:p.Phe315Tyr
ENST00000283871.9:c.944T>A	ENSP00000283871.5:p.Phe315Tyr
ENST00000470321.1:n.284T>A
ENST00000475447.2:c.307+3072T>A
ENST00000492108.5:c.285+3072T>A	ENSP00000419838.1:n.285+3072T>A
ENST00000494453.1:c.364T>A
NM_000187.3:c.944T>A	NP_000178.2:p.Phe315Tyr
XM_005247412.1:c.719T>A	XP_005247469.1:p.Phe240Tyr
XM_005247413.1:c.944T>A	XP_005247470.1:p.Phe315Tyr
XM_011512746.1:c.879+3072T>A	XP_011511048.1:n.879+3072T>A
XM_005247412.2:c.719T>A	XP_005247469.1:p.Phe240Tyr
XM_005247413.2:c.944T>A	XP_005247470.1:p.Phe315Tyr
XM_011512746.2:c.879+3072T>A	XP_011511048.1:n.879+3072T>A
XM_017006277.2:c.521T>A	XP_016861766.1:p.Phe174Tyr
NM_000187.4:c.944T>A MANE Select	NP_000178.2:p.Phe315Tyr