Canonical Allele Identifier: CA545611124

Gene: HGD

Linked Data

• dbSNP Id: rs1387939167
• gnomAD v2: 3-120393709-C-A
• gnomAD v4: 3-120674862-C-A
• MyVariant Identifiers: chr3:g.120393709C>A (hg19) ; chr3:g.120674862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674862C>A , CM000665.2:g.120674862C>A	GRCh38
NC_000003.11:g.120393709C>A , CM000665.1:g.120393709C>A	GRCh37
NC_000003.10:g.121876399C>A	NCBI36
NG_011957.1:g.12620G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.176+39G>T MANE Select	ENSP00000283871.5:n.176+39G>T
ENST00000283871.9:c.176+39G>T	ENSP00000283871.5:n.176+39G>T
ENST00000466528.5:n.202+39G>T
ENST00000476082.2:c.53+930G>T	ENSP00000419560.2:n.53+930G>T
ENST00000480862.1:n.373G>T
ENST00000485313.5:n.284+39G>T
ENST00000488183.5:n.434+39G>T
NM_000187.3:c.176+39G>T	NP_000178.2:n.176+39G>T
XM_005247412.1:c.176+39G>T	XP_005247469.1:n.176+39G>T
XM_005247413.1:c.176+39G>T	XP_005247470.1:n.176+39G>T
XM_005247414.3:c.176+39G>T	XP_005247471.1:n.176+39G>T
XM_011512746.1:c.176+39G>T	XP_011511048.1:n.176+39G>T
XM_005247412.2:c.176+39G>T	XP_005247469.1:n.176+39G>T
XM_005247413.2:c.176+39G>T	XP_005247470.1:n.176+39G>T
XM_005247414.5:c.176+39G>T	XP_005247471.1:n.176+39G>T
XM_011512746.2:c.176+39G>T	XP_011511048.1:n.176+39G>T
XM_017006277.2:c.-248+39G>T	XP_016861766.1:n.-248+39G>T
NM_000187.4:c.176+39G>T MANE Select	NP_000178.2:n.176+39G>T