Canonical Allele Identifier: CA1397094580

Gene: HGD

Linked Data

• dbSNP Id: rs1940990381

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641769G>A , CM000665.2:g.120641769G>A	GRCh38
NC_000003.11:g.120360616G>A , CM000665.1:g.120360616G>A	GRCh37
NC_000003.10:g.121843306G>A	NCBI36
NG_011957.1:g.45713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.775-76C>T MANE Select	ENSP00000283871.5:n.775-76C>T
ENST00000283871.9:c.775-76C>T	ENSP00000283871.5:n.775-76C>T
ENST00000470321.1:n.39C>T
ENST00000475447.2:c.203-76C>T
ENST00000492108.5:c.181-76C>T	ENSP00000419838.1:n.181-76C>T
ENST00000494453.1:c.195-76C>T
NM_000187.3:c.775-76C>T	NP_000178.2:n.775-76C>T
XM_005247412.1:c.550-76C>T	XP_005247469.1:n.550-76C>T
XM_005247413.1:c.775-76C>T	XP_005247470.1:n.775-76C>T
XM_011512746.1:c.775-76C>T	XP_011511048.1:n.775-76C>T
XM_005247412.2:c.550-76C>T	XP_005247469.1:n.550-76C>T
XM_005247413.2:c.775-76C>T	XP_005247470.1:n.775-76C>T
XM_011512746.2:c.775-76C>T	XP_011511048.1:n.775-76C>T
XM_017006277.2:c.352-76C>T	XP_016861766.1:n.352-76C>T
NM_000187.4:c.775-76C>T MANE Select	NP_000178.2:n.775-76C>T