Canonical Allele Identifier: CA354072708

Gene: HGD

Linked Data

• dbSNP Id: rs1940644454
• gnomAD v3: 3-120633176-C-A
• gnomAD v4: 3-120633176-C-A
• MyVariant Identifiers: chr3:g.120352023C>A (hg19) ; chr3:g.120633176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633176C>A , CM000665.2:g.120633176C>A	GRCh38
NC_000003.11:g.120352023C>A , CM000665.1:g.120352023C>A	GRCh37
NC_000003.10:g.121834713C>A	NCBI36
NG_011957.1:g.54306G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1159G>T MANE Select	ENSP00000283871.5:p.Ala387Ser
ENST00000283871.9:c.1159G>T	ENSP00000283871.5:p.Ala387Ser
ENST00000470321.1:n.499G>T
ENST00000492108.5:c.438G>T	ENSP00000419838.1:n.438G>T
NM_000187.3:c.1159G>T	NP_000178.2:p.Ala387Ser
XM_005247412.1:c.934G>T	XP_005247469.1:p.Ala312Ser
XM_005247412.2:c.934G>T	XP_005247469.1:p.Ala312Ser
XM_017006277.2:c.736G>T	XP_016861766.1:p.Ala246Ser
NM_000187.4:c.1159G>T MANE Select	NP_000178.2:p.Ala387Ser