Canonical Allele Identifier: CA897953640

Gene: HGD

Linked Data

• dbSNP Id: rs1388313356
• gnomAD v3: 3-120640363-C-T
• gnomAD v4: 3-120640363-C-T
• MyVariant Identifiers: chr3:g.120359210C>T (hg19) ; chr3:g.120640363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120640363C>T , CM000665.2:g.120640363C>T	GRCh38
NC_000003.11:g.120359210C>T , CM000665.1:g.120359210C>T	GRCh37
NC_000003.10:g.121841900C>T	NCBI36
NG_011957.1:g.47119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.879+1226G>A MANE Select	ENSP00000283871.5:n.879+1226G>A
ENST00000283871.9:c.879+1226G>A	ENSP00000283871.5:n.879+1226G>A
ENST00000470321.1:n.219+1226G>A
ENST00000475447.2:c.307+1226G>A
ENST00000492108.5:c.285+1226G>A	ENSP00000419838.1:n.285+1226G>A
ENST00000494453.1:c.299+1226G>A
NM_000187.3:c.879+1226G>A	NP_000178.2:n.879+1226G>A
XM_005247412.1:c.654+1226G>A	XP_005247469.1:n.654+1226G>A
XM_005247413.1:c.879+1226G>A	XP_005247470.1:n.879+1226G>A
XM_011512746.1:c.879+1226G>A	XP_011511048.1:n.879+1226G>A
XM_005247412.2:c.654+1226G>A	XP_005247469.1:n.654+1226G>A
XM_005247413.2:c.879+1226G>A	XP_005247470.1:n.879+1226G>A
XM_011512746.2:c.879+1226G>A	XP_011511048.1:n.879+1226G>A
XM_017006277.2:c.456+1226G>A	XP_016861766.1:n.456+1226G>A
NM_000187.4:c.879+1226G>A MANE Select	NP_000178.2:n.879+1226G>A