Canonical Allele Identifier: CA354081517

Gene: HGD

Linked Data

• gnomAD v4: 3-120670512-G-T
• MyVariant Identifiers: chr3:g.120389359G>T (hg19) ; chr3:g.120670512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670512G>T , CM000665.2:g.120670512G>T	GRCh38
NC_000003.11:g.120389359G>T , CM000665.1:g.120389359G>T	GRCh37
NC_000003.10:g.121872049G>T	NCBI36
NG_011957.1:g.16970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.197C>A MANE Select	ENSP00000283871.5:p.Pro66His
ENST00000283871.9:c.197C>A	ENSP00000283871.5:p.Pro66His
ENST00000466528.5:n.223C>A
ENST00000476082.2:c.74C>A	ENSP00000419560.2:p.Pro25His
ENST00000485313.5:n.305C>A
ENST00000488183.5:n.455C>A
NM_000187.3:c.197C>A	NP_000178.2:p.Pro66His
XM_005247412.1:c.197C>A	XP_005247469.1:p.Pro66His
XM_005247413.1:c.197C>A	XP_005247470.1:p.Pro66His
XM_005247414.3:c.197C>A	XP_005247471.1:p.Pro66His
XM_011512746.1:c.197C>A	XP_011511048.1:p.Pro66His
XM_005247412.2:c.197C>A	XP_005247469.1:p.Pro66His
XM_005247413.2:c.197C>A	XP_005247470.1:p.Pro66His
XM_005247414.5:c.197C>A	XP_005247471.1:p.Pro66His
XM_011512746.2:c.197C>A	XP_011511048.1:p.Pro66His
XM_017006277.2:c.-227C>A	XP_016861766.1:n.-227C>A
NM_000187.4:c.197C>A MANE Select	NP_000178.2:p.Pro66His