Canonical Allele Identifier: CA2560057

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641662T>C , CM000665.2:g.120641662T>C	GRCh38
NC_000003.11:g.120360509T>C , CM000665.1:g.120360509T>C	GRCh37
NC_000003.10:g.121843199T>C	NCBI36
NG_011957.1:g.45820A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.806A>G MANE Select	NP_000178.2:p.His269Arg
ENST00000283871.10:c.806A>G MANE Select	ENSP00000283871.5:p.His269Arg
NM_000187.3:c.806A>G	NP_000178.2:p.His269Arg
ENST00000283871.9:c.806A>G	ENSP00000283871.5:p.His269Arg
ENST00000470321.1:n.146A>G
ENST00000475447.2:c.234A>G
ENST00000492108.5:c.212A>G	ENSP00000419838.1:p.His71Arg
ENST00000494453.1:c.226A>G
XM_005247412.1:c.581A>G	XP_005247469.1:p.His194Arg
XM_005247412.2:c.581A>G	XP_005247469.1:p.His194Arg
XM_005247413.1:c.806A>G	XP_005247470.1:p.His269Arg
XM_005247413.2:c.806A>G	XP_005247470.1:p.His269Arg
XM_011512746.1:c.806A>G	XP_011511048.1:p.His269Arg
XM_011512746.2:c.806A>G	XP_011511048.1:p.His269Arg
XM_017006277.2:c.383A>G	XP_016861766.1:p.His128Arg