Canonical Allele Identifier: CA354081822

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674903T>G , CM000665.2:g.120674903T>G	GRCh38
NC_000003.11:g.120393750T>G , CM000665.1:g.120393750T>G	GRCh37
NC_000003.10:g.121876440T>G	NCBI36
NG_011957.1:g.12579A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.174A>C MANE Select	NP_000178.2:p.Arg58Ser
ENST00000283871.10:c.174A>C MANE Select	ENSP00000283871.5:p.Arg58Ser
NM_000187.3:c.174A>C	NP_000178.2:p.Arg58Ser
ENST00000283871.9:c.174A>C	ENSP00000283871.5:p.Arg58Ser
ENST00000466528.5:n.200A>C
ENST00000476082.2:c.53+889A>C	ENSP00000419560.2:n.53+889A>C
ENST00000480862.1:n.332A>C
ENST00000485313.5:n.282A>C
ENST00000488183.5:n.432A>C
XM_005247412.1:c.174A>C	XP_005247469.1:p.Arg58Ser
XM_005247412.2:c.174A>C	XP_005247469.1:p.Arg58Ser
XM_005247413.1:c.174A>C	XP_005247470.1:p.Arg58Ser
XM_005247413.2:c.174A>C	XP_005247470.1:p.Arg58Ser
XM_005247414.3:c.174A>C	XP_005247471.1:p.Arg58Ser
XM_005247414.5:c.174A>C	XP_005247471.1:p.Arg58Ser
XM_011512746.1:c.174A>C	XP_011511048.1:p.Arg58Ser
XM_011512746.2:c.174A>C	XP_011511048.1:p.Arg58Ser
XM_017006277.2:c.-250A>C	XP_016861766.1:n.-250A>C