Canonical Allele Identifier: CA81784062

Gene: HGD

Linked Data

• dbSNP Id: rs747297821
• gnomAD v4: 3-120641700-A-T
• MyVariant Identifiers: chr3:g.120360547A>T (hg19) ; chr3:g.120641700A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641700A>T , CM000665.2:g.120641700A>T	GRCh38
NC_000003.11:g.120360547A>T , CM000665.1:g.120360547A>T	GRCh37
NC_000003.10:g.121843237A>T	NCBI36
NG_011957.1:g.45782T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.775-7T>A MANE Select	ENSP00000283871.5:n.775-7T>A
ENST00000283871.9:c.775-7T>A	ENSP00000283871.5:n.775-7T>A
ENST00000470321.1:n.108T>A
ENST00000475447.2:c.203-7T>A
ENST00000492108.5:c.181-7T>A	ENSP00000419838.1:n.181-7T>A
ENST00000494453.1:c.195-7T>A
NM_000187.3:c.775-7T>A	NP_000178.2:n.775-7T>A
XM_005247412.1:c.550-7T>A	XP_005247469.1:n.550-7T>A
XM_005247413.1:c.775-7T>A	XP_005247470.1:n.775-7T>A
XM_011512746.1:c.775-7T>A	XP_011511048.1:n.775-7T>A
XM_005247412.2:c.550-7T>A	XP_005247469.1:n.550-7T>A
XM_005247413.2:c.775-7T>A	XP_005247470.1:n.775-7T>A
XM_011512746.2:c.775-7T>A	XP_011511048.1:n.775-7T>A
XM_017006277.2:c.352-7T>A	XP_016861766.1:n.352-7T>A
NM_000187.4:c.775-7T>A MANE Select	NP_000178.2:n.775-7T>A