Canonical Allele Identifier: CA2560297

Gene: HGD

Linked Data

• ClinVar Variation Id: 255481
• ClinVar RCV Id: RCV000306096 ; RCV000252512
• dbSNP Id: rs2255543
• ExAC: 3:120389316 T / A
• gnomAD v2: 3-120389316-T-A
• gnomAD v3: 3-120670469-T-A
• gnomAD v4: 3-120670469-T-A
• MyVariant Identifiers: chr3:g.120389316T>A (hg19) ; chr3:g.120670469T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670469T>A , CM000665.2:g.120670469T>A	GRCh38
NC_000003.11:g.120389316T>A , CM000665.1:g.120389316T>A	GRCh37
NC_000003.10:g.121872006T>A	NCBI36
NG_011957.1:g.17013A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.240A>T MANE Select	ENSP00000283871.5:p.Gln80His
ENST00000283871.9:c.240A>T	ENSP00000283871.5:p.Gln80His
ENST00000466528.5:n.266A>T
ENST00000476082.2:c.117A>T	ENSP00000419560.2:p.Gln39His
ENST00000485313.5:n.348A>T
ENST00000488183.5:n.498A>T
NM_000187.3:c.240A>T	NP_000178.2:p.Gln80His
XM_005247412.1:c.240A>T	XP_005247469.1:p.Gln80His
XM_005247413.1:c.240A>T	XP_005247470.1:p.Gln80His
XM_005247414.3:c.240A>T	XP_005247471.1:p.Gln80His
XM_011512746.1:c.240A>T	XP_011511048.1:p.Gln80His
XM_005247412.2:c.240A>T	XP_005247469.1:p.Gln80His
XM_005247413.2:c.240A>T	XP_005247470.1:p.Gln80His
XM_005247414.5:c.240A>T	XP_005247471.1:p.Gln80His
XM_011512746.2:c.240A>T	XP_011511048.1:p.Gln80His
XM_017006277.2:c.-184A>T	XP_016861766.1:n.-184A>T
NM_000187.4:c.240A>T MANE Select	NP_000178.2:p.Gln80His