Canonical Allele Identifier: CA354081608

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120389379G>C (hg19) ; chr3:g.120670532G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670532G>C , CM000665.2:g.120670532G>C	GRCh38
NC_000003.11:g.120389379G>C , CM000665.1:g.120389379G>C	GRCh37
NC_000003.10:g.121872069G>C	NCBI36
NG_011957.1:g.16950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.177C>G MANE Select	ENSP00000283871.5:p.Ser59Arg
ENST00000283871.9:c.177C>G	ENSP00000283871.5:p.Ser59Arg
ENST00000466528.5:n.203C>G
ENST00000476082.2:c.54C>G	ENSP00000419560.2:p.Ser18Arg
ENST00000485313.5:n.285C>G
ENST00000488183.5:n.435C>G
NM_000187.3:c.177C>G	NP_000178.2:p.Ser59Arg
XM_005247412.1:c.177C>G	XP_005247469.1:p.Ser59Arg
XM_005247413.1:c.177C>G	XP_005247470.1:p.Ser59Arg
XM_005247414.3:c.177C>G	XP_005247471.1:p.Ser59Arg
XM_011512746.1:c.177C>G	XP_011511048.1:p.Ser59Arg
XM_005247412.2:c.177C>G	XP_005247469.1:p.Ser59Arg
XM_005247413.2:c.177C>G	XP_005247470.1:p.Ser59Arg
XM_005247414.5:c.177C>G	XP_005247471.1:p.Ser59Arg
XM_011512746.2:c.177C>G	XP_011511048.1:p.Ser59Arg
XM_017006277.2:c.-247C>G	XP_016861766.1:n.-247C>G
NM_000187.4:c.177C>G MANE Select	NP_000178.2:p.Ser59Arg