Canonical Allele Identifier: CA81806972

Gene: HGD

Linked Data

• dbSNP Id: rs770398071
• MyVariant Identifiers: chr3:g.120389293A>C (hg19) ; chr3:g.120670446A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.263T>G MANE Select	ENSP00000283871.5:p.Val88Gly
ENST00000283871.9:c.263T>G	ENSP00000283871.5:p.Val88Gly
ENST00000466528.5:n.289T>G
ENST00000476082.2:c.140T>G	ENSP00000419560.2:p.Val47Gly
ENST00000485313.5:n.371T>G
ENST00000488183.5:n.521T>G
NM_000187.3:c.263T>G	NP_000178.2:p.Val88Gly
XM_005247412.1:c.263T>G	XP_005247469.1:p.Val88Gly
XM_005247413.1:c.263T>G	XP_005247470.1:p.Val88Gly
XM_005247414.3:c.263T>G	XP_005247471.1:p.Val88Gly
XM_011512746.1:c.263T>G	XP_011511048.1:p.Val88Gly
XM_005247412.2:c.263T>G	XP_005247469.1:p.Val88Gly
XM_005247413.2:c.263T>G	XP_005247470.1:p.Val88Gly
XM_005247414.5:c.263T>G	XP_005247471.1:p.Val88Gly
XM_011512746.2:c.263T>G	XP_011511048.1:p.Val88Gly
XM_017006277.2:c.-161T>G	XP_016861766.1:n.-161T>G
NM_000187.4:c.263T>G MANE Select	NP_000178.2:p.Val88Gly