Canonical Allele Identifier: CA354075020

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644346G>T , CM000665.2:g.120644346G>T	GRCh38
NC_000003.11:g.120363193G>T , CM000665.1:g.120363193G>T	GRCh37
NC_000003.10:g.121845883G>T	NCBI36
NG_011957.1:g.43136C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.747C>A MANE Select	NP_000178.2:p.Tyr249Ter
ENST00000283871.10:c.747C>A MANE Select	ENSP00000283871.5:p.Tyr249Ter
NM_000187.3:c.747C>A	NP_000178.2:p.Tyr249Ter
ENST00000283871.9:c.747C>A	ENSP00000283871.5:p.Tyr249Ter
ENST00000475447.2:c.202+252C>A
ENST00000492108.5:c.180+2627C>A	ENSP00000419838.1:n.180+2627C>A
ENST00000494453.1:c.167C>A
XM_005247412.1:c.549+2627C>A	XP_005247469.1:n.549+2627C>A
XM_005247412.2:c.549+2627C>A	XP_005247469.1:n.549+2627C>A
XM_005247413.1:c.747C>A	XP_005247470.1:p.Tyr249Ter
XM_005247413.2:c.747C>A	XP_005247470.1:p.Tyr249Ter
XM_005247414.5:c.*221C>A	XP_005247471.1:n.*221C>A
XM_011512746.1:c.747C>A	XP_011511048.1:p.Tyr249Ter
XM_011512746.2:c.747C>A	XP_011511048.1:p.Tyr249Ter
XM_017006277.2:c.324C>A	XP_016861766.1:p.Tyr108Ter