Canonical Allele Identifier: CA2560141

Gene: HGD

Linked Data

• dbSNP Id: rs372084813
• ExAC: 3:120365129 C / T
• gnomAD v2: 3-120365129-C-T
• gnomAD v3: 3-120646282-C-T
• gnomAD v4: 3-120646282-C-T
• MyVariant Identifiers: chr3:g.120365129C>T (hg19) ; chr3:g.120646282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646282C>T , CM000665.2:g.120646282C>T	GRCh38
NC_000003.11:g.120365129C>T , CM000665.1:g.120365129C>T	GRCh37
NC_000003.10:g.121847819C>T	NCBI36
NG_011957.1:g.41200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.634G>A MANE Select	ENSP00000283871.5:p.Asp212Asn
ENST00000283871.9:c.634G>A	ENSP00000283871.5:p.Asp212Asn
ENST00000475447.2:c.165G>A
ENST00000492108.5:c.180+691G>A	ENSP00000419838.1:n.180+691G>A
ENST00000494453.1:c.54G>A
NM_000187.3:c.634G>A	NP_000178.2:p.Asp212Asn
XM_005247412.1:c.549+691G>A	XP_005247469.1:n.549+691G>A
XM_005247413.1:c.634G>A	XP_005247470.1:p.Asp212Asn
XM_005247414.3:c.634G>A	XP_005247471.1:p.Asp212Asn
XM_011512746.1:c.634G>A	XP_011511048.1:p.Asp212Asn
XM_005247412.2:c.549+691G>A	XP_005247469.1:n.549+691G>A
XM_005247413.2:c.634G>A	XP_005247470.1:p.Asp212Asn
XM_005247414.5:c.634G>A	XP_005247471.1:p.Asp212Asn
XM_011512746.2:c.634G>A	XP_011511048.1:p.Asp212Asn
XM_017006277.2:c.211G>A	XP_016861766.1:p.Asp71Asn
NM_000187.4:c.634G>A MANE Select	NP_000178.2:p.Asp212Asn