Canonical Allele Identifier: CA545611283

Gene: HGD

Linked Data

• dbSNP Id: rs1352789802
• gnomAD v2: 3-120394713-G-A
• gnomAD v4: 3-120675866-G-A
• MyVariant Identifiers: chr3:g.120394713G>A (hg19) ; chr3:g.120675866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675866G>A , CM000665.2:g.120675866G>A	GRCh38
NC_000003.11:g.120394713G>A , CM000665.1:g.120394713G>A	GRCh37
NC_000003.10:g.121877403G>A	NCBI36
NG_011957.1:g.11616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.16-3C>T MANE Select	ENSP00000283871.5:n.16-3C>T
ENST00000283871.9:c.16-3C>T	ENSP00000283871.5:n.16-3C>T
ENST00000466528.5:n.42-3C>T
ENST00000476082.2:c.-19-3C>T	ENSP00000419560.2:n.-19-3C>T
ENST00000480862.1:n.174-3C>T
ENST00000485313.5:n.124-3C>T
ENST00000488183.5:n.274-3C>T
NM_000187.3:c.16-3C>T	NP_000178.2:n.16-3C>T
XM_005247412.1:c.16-3C>T	XP_005247469.1:n.16-3C>T
XM_005247413.1:c.16-3C>T	XP_005247470.1:n.16-3C>T
XM_005247414.3:c.16-3C>T	XP_005247471.1:n.16-3C>T
XM_011512746.1:c.16-3C>T	XP_011511048.1:n.16-3C>T
XM_005247412.2:c.16-3C>T	XP_005247469.1:n.16-3C>T
XM_005247413.2:c.16-3C>T	XP_005247470.1:n.16-3C>T
XM_005247414.5:c.16-3C>T	XP_005247471.1:n.16-3C>T
XM_011512746.2:c.16-3C>T	XP_011511048.1:n.16-3C>T
XM_017006277.2:c.-408-3C>T	XP_016861766.1:n.-408-3C>T
NM_000187.4:c.16-3C>T MANE Select	NP_000178.2:n.16-3C>T