Canonical Allele Identifier: CA1397096440

Gene: HGD

Linked Data

• dbSNP Id: rs1941147605

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646033C>T , CM000665.2:g.120646033C>T	GRCh38
NC_000003.11:g.120364880C>T , CM000665.1:g.120364880C>T	GRCh37
NC_000003.10:g.121847570C>T	NCBI36
NG_011957.1:g.41449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+234G>A MANE Select	ENSP00000283871.5:n.649+234G>A
ENST00000283871.9:c.649+234G>A	ENSP00000283871.5:n.649+234G>A
ENST00000475447.2:c.180+234G>A
ENST00000492108.5:c.180+940G>A	ENSP00000419838.1:n.180+940G>A
ENST00000494453.1:c.69+234G>A
NM_000187.3:c.649+234G>A	NP_000178.2:n.649+234G>A
XM_005247412.1:c.549+940G>A	XP_005247469.1:n.549+940G>A
XM_005247413.1:c.649+234G>A	XP_005247470.1:n.649+234G>A
XM_005247414.3:c.649+234G>A	XP_005247471.1:n.649+234G>A
XM_011512746.1:c.649+234G>A	XP_011511048.1:n.649+234G>A
XM_005247412.2:c.549+940G>A	XP_005247469.1:n.549+940G>A
XM_005247413.2:c.649+234G>A	XP_005247470.1:n.649+234G>A
XM_005247414.5:c.649+234G>A	XP_005247471.1:n.649+234G>A
XM_011512746.2:c.649+234G>A	XP_011511048.1:n.649+234G>A
XM_017006277.2:c.226+234G>A	XP_016861766.1:n.226+234G>A
NM_000187.4:c.649+234G>A MANE Select	NP_000178.2:n.649+234G>A