Canonical Allele Identifier: CA354073698

Gene: HGD

Linked Data

• dbSNP Id: rs1196051956
• gnomAD v3: 3-120638553-G-T
• gnomAD v4: 3-120638553-G-T
• MyVariant Identifiers: chr3:g.120357400G>T (hg19) ; chr3:g.120638553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638553G>T , CM000665.2:g.120638553G>T	GRCh38
NC_000003.11:g.120357400G>T , CM000665.1:g.120357400G>T	GRCh37
NC_000003.10:g.121840090G>T	NCBI36
NG_011957.1:g.48929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.908C>A MANE Select	ENSP00000283871.5:p.Ala303Asp
ENST00000283871.9:c.908C>A	ENSP00000283871.5:p.Ala303Asp
ENST00000470321.1:n.248C>A
ENST00000475447.2:c.307+3036C>A
ENST00000492108.5:c.285+3036C>A	ENSP00000419838.1:n.285+3036C>A
ENST00000494453.1:c.328C>A
NM_000187.3:c.908C>A	NP_000178.2:p.Ala303Asp
XM_005247412.1:c.683C>A	XP_005247469.1:p.Ala228Asp
XM_005247413.1:c.908C>A	XP_005247470.1:p.Ala303Asp
XM_011512746.1:c.879+3036C>A	XP_011511048.1:n.879+3036C>A
XM_005247412.2:c.683C>A	XP_005247469.1:p.Ala228Asp
XM_005247413.2:c.908C>A	XP_005247470.1:p.Ala303Asp
XM_011512746.2:c.879+3036C>A	XP_011511048.1:n.879+3036C>A
XM_017006277.2:c.485C>A	XP_016861766.1:p.Ala162Asp
NM_000187.4:c.908C>A MANE Select	NP_000178.2:p.Ala303Asp