Canonical Allele Identifier: CA2560403

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120682104T>G , CM000665.2:g.120682104T>G	GRCh38
NC_000003.11:g.120400951T>G , CM000665.1:g.120400951T>G	GRCh37
NC_000003.10:g.121883641T>G	NCBI36
NG_011957.1:g.5378A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.8A>C MANE Select	NP_000178.2:p.Glu3Ala
ENST00000283871.10:c.8A>C MANE Select	ENSP00000283871.5:p.Glu3Ala
NM_000187.3:c.8A>C	NP_000178.2:p.Glu3Ala
ENST00000283871.9:c.8A>C	ENSP00000283871.5:p.Glu3Ala
ENST00000466528.5:n.34A>C
ENST00000476082.2:c.-27A>C	ENSP00000419560.2:n.-27A>C
ENST00000480862.1:n.166A>C
ENST00000485313.5:n.28A>C
ENST00000488183.5:n.140A>C
XM_005247412.1:c.8A>C	XP_005247469.1:p.Glu3Ala
XM_005247412.2:c.8A>C	XP_005247469.1:p.Glu3Ala
XM_005247413.1:c.8A>C	XP_005247470.1:p.Glu3Ala
XM_005247413.2:c.8A>C	XP_005247470.1:p.Glu3Ala
XM_005247414.3:c.8A>C	XP_005247471.1:p.Glu3Ala
XM_005247414.5:c.8A>C	XP_005247471.1:p.Glu3Ala
XM_011512746.1:c.8A>C	XP_011511048.1:p.Glu3Ala
XM_011512746.2:c.8A>C	XP_011511048.1:p.Glu3Ala
XM_017006277.2:c.-504A>C	XP_016861766.1:n.-504A>C