Canonical Allele Identifier: CA2560011

Gene: HGD

Linked Data

• dbSNP Id: rs199927284
• ExAC: 3:120357362 C / A
• gnomAD v2: 3-120357362-C-A
• gnomAD v3: 3-120638515-C-A
• gnomAD v4: 3-120638515-C-A
• MyVariant Identifiers: chr3:g.120357362C>A (hg19) ; chr3:g.120638515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638515C>A , CM000665.2:g.120638515C>A	GRCh38
NC_000003.11:g.120357362C>A , CM000665.1:g.120357362C>A	GRCh37
NC_000003.10:g.121840052C>A	NCBI36
NG_011957.1:g.48967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.946G>T MANE Select	ENSP00000283871.5:p.Val316Phe
ENST00000283871.9:c.946G>T	ENSP00000283871.5:p.Val316Phe
ENST00000470321.1:n.286G>T
ENST00000475447.2:c.307+3074G>T
ENST00000492108.5:c.285+3074G>T	ENSP00000419838.1:n.285+3074G>T
ENST00000494453.1:c.366G>T
NM_000187.3:c.946G>T	NP_000178.2:p.Val316Phe
XM_005247412.1:c.721G>T	XP_005247469.1:p.Val241Phe
XM_005247413.1:c.946G>T	XP_005247470.1:p.Val316Phe
XM_011512746.1:c.879+3074G>T	XP_011511048.1:n.879+3074G>T
XM_005247412.2:c.721G>T	XP_005247469.1:p.Val241Phe
XM_005247413.2:c.946G>T	XP_005247470.1:p.Val316Phe
XM_011512746.2:c.879+3074G>T	XP_011511048.1:n.879+3074G>T
XM_017006277.2:c.523G>T	XP_016861766.1:p.Val175Phe
NM_000187.4:c.946G>T MANE Select	NP_000178.2:p.Val316Phe