Canonical Allele Identifier: CA2560341

Gene: HGD

Linked Data

• dbSNP Id: rs374495094
• ExAC: 3:120393786 T / C
• gnomAD v2: 3-120393786-T-C
• gnomAD v4: 3-120674939-T-C
• MyVariant Identifiers: chr3:g.120393786T>C (hg19) ; chr3:g.120674939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674939T>C , CM000665.2:g.120674939T>C	GRCh38
NC_000003.11:g.120393786T>C , CM000665.1:g.120393786T>C	GRCh37
NC_000003.10:g.121876476T>C	NCBI36
NG_011957.1:g.12543A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.138A>G MANE Select	ENSP00000283871.5:p.Gly46=
ENST00000283871.9:c.138A>G	ENSP00000283871.5:p.Gly46=
ENST00000466528.5:n.164A>G
ENST00000476082.2:c.53+853A>G	ENSP00000419560.2:n.53+853A>G
ENST00000480862.1:n.296A>G
ENST00000485313.5:n.246A>G
ENST00000488183.5:n.396A>G
NM_000187.3:c.138A>G	NP_000178.2:p.Gly46=
XM_005247412.1:c.138A>G	XP_005247469.1:p.Gly46=
XM_005247413.1:c.138A>G	XP_005247470.1:p.Gly46=
XM_005247414.3:c.138A>G	XP_005247471.1:p.Gly46=
XM_011512746.1:c.138A>G	XP_011511048.1:p.Gly46=
XM_005247412.2:c.138A>G	XP_005247469.1:p.Gly46=
XM_005247413.2:c.138A>G	XP_005247470.1:p.Gly46=
XM_005247414.5:c.138A>G	XP_005247471.1:p.Gly46=
XM_011512746.2:c.138A>G	XP_011511048.1:p.Gly46=
XM_017006277.2:c.-286A>G	XP_016861766.1:n.-286A>G
NM_000187.4:c.138A>G MANE Select	NP_000178.2:p.Gly46=