Canonical Allele Identifier: CA81806976

Gene: HGD

Linked Data

• dbSNP Id: rs770398071
• gnomAD v2: 3-120389293-A-G
• gnomAD v3: 3-120670446-A-G
• gnomAD v4: 3-120670446-A-G
• MyVariant Identifiers: chr3:g.120389293A>G (hg19) ; chr3:g.120670446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670446A>G , CM000665.2:g.120670446A>G	GRCh38
NC_000003.11:g.120389293A>G , CM000665.1:g.120389293A>G	GRCh37
NC_000003.10:g.121871983A>G	NCBI36
NG_011957.1:g.17036T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.263T>C MANE Select	ENSP00000283871.5:p.Val88Ala
ENST00000283871.9:c.263T>C	ENSP00000283871.5:p.Val88Ala
ENST00000466528.5:n.289T>C
ENST00000476082.2:c.140T>C	ENSP00000419560.2:p.Val47Ala
ENST00000485313.5:n.371T>C
ENST00000488183.5:n.521T>C
NM_000187.3:c.263T>C	NP_000178.2:p.Val88Ala
XM_005247412.1:c.263T>C	XP_005247469.1:p.Val88Ala
XM_005247413.1:c.263T>C	XP_005247470.1:p.Val88Ala
XM_005247414.3:c.263T>C	XP_005247471.1:p.Val88Ala
XM_011512746.1:c.263T>C	XP_011511048.1:p.Val88Ala
XM_005247412.2:c.263T>C	XP_005247469.1:p.Val88Ala
XM_005247413.2:c.263T>C	XP_005247470.1:p.Val88Ala
XM_005247414.5:c.263T>C	XP_005247471.1:p.Val88Ala
XM_011512746.2:c.263T>C	XP_011511048.1:p.Val88Ala
XM_017006277.2:c.-161T>C	XP_016861766.1:n.-161T>C
NM_000187.4:c.263T>C MANE Select	NP_000178.2:p.Val88Ala