Canonical Allele Identifier: CA354078160

Gene: HGD

Linked Data

• gnomAD v4: 3-120650865-C-T
• MyVariant Identifiers: chr3:g.120369712C>T (hg19) ; chr3:g.120650865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650865C>T , CM000665.2:g.120650865C>T	GRCh38
NC_000003.11:g.120369712C>T , CM000665.1:g.120369712C>T	GRCh37
NC_000003.10:g.121852402C>T	NCBI36
NG_011957.1:g.36617G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.343G>A MANE Select	ENSP00000283871.5:p.Gly115Ser
ENST00000283871.9:c.343G>A	ENSP00000283871.5:p.Gly115Ser
ENST00000476082.2:c.220G>A	ENSP00000419560.2:p.Gly74Ser
ENST00000485313.5:n.451G>A
NM_000187.3:c.343G>A	NP_000178.2:p.Gly115Ser
XM_005247412.1:c.343G>A	XP_005247469.1:p.Gly115Ser
XM_005247413.1:c.343G>A	XP_005247470.1:p.Gly115Ser
XM_005247414.3:c.343G>A	XP_005247471.1:p.Gly115Ser
XM_011512746.1:c.343G>A	XP_011511048.1:p.Gly115Ser
XM_005247412.2:c.343G>A	XP_005247469.1:p.Gly115Ser
XM_005247413.2:c.343G>A	XP_005247470.1:p.Gly115Ser
XM_005247414.5:c.343G>A	XP_005247471.1:p.Gly115Ser
XM_011512746.2:c.343G>A	XP_011511048.1:p.Gly115Ser
XM_017006277.2:c.-81G>A	XP_016861766.1:n.-81G>A
NM_000187.4:c.343G>A MANE Select	NP_000178.2:p.Gly115Ser