Canonical Allele Identifier: CA2560004

Gene: HGD

Linked Data

• dbSNP Id: rs769424424
• ExAC: 3:120357335 C / T
• gnomAD v2: 3-120357335-C-T
• gnomAD v4: 3-120638488-C-T
• MyVariant Identifiers: chr3:g.120357335C>T (hg19) ; chr3:g.120638488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638488C>T , CM000665.2:g.120638488C>T	GRCh38
NC_000003.11:g.120357335C>T , CM000665.1:g.120357335C>T	GRCh37
NC_000003.10:g.121840025C>T	NCBI36
NG_011957.1:g.48994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.973G>A MANE Select	ENSP00000283871.5:p.Ala325Thr
ENST00000283871.9:c.973G>A	ENSP00000283871.5:p.Ala325Thr
ENST00000470321.1:n.313G>A
ENST00000475447.2:c.307+3101G>A
ENST00000492108.5:c.285+3101G>A	ENSP00000419838.1:n.285+3101G>A
ENST00000494453.1:c.393G>A
NM_000187.3:c.973G>A	NP_000178.2:p.Ala325Thr
XM_005247412.1:c.748G>A	XP_005247469.1:p.Ala250Thr
XM_005247413.1:c.973G>A	XP_005247470.1:p.Ala325Thr
XM_011512746.1:c.879+3101G>A	XP_011511048.1:n.879+3101G>A
XM_005247412.2:c.748G>A	XP_005247469.1:p.Ala250Thr
XM_005247413.2:c.973G>A	XP_005247470.1:p.Ala325Thr
XM_011512746.2:c.879+3101G>A	XP_011511048.1:n.879+3101G>A
XM_017006277.2:c.550G>A	XP_016861766.1:p.Ala184Thr
NM_000187.4:c.973G>A MANE Select	NP_000178.2:p.Ala325Thr