Canonical Allele Identifier: CA354073857

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641593T>C , CM000665.2:g.120641593T>C	GRCh38
NC_000003.11:g.120360440T>C , CM000665.1:g.120360440T>C	GRCh37
NC_000003.10:g.121843130T>C	NCBI36
NG_011957.1:g.45889A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.875A>G MANE Select	NP_000178.2:p.His292Arg
ENST00000283871.10:c.875A>G MANE Select	ENSP00000283871.5:p.His292Arg
NM_000187.3:c.875A>G	NP_000178.2:p.His292Arg
ENST00000283871.9:c.875A>G	ENSP00000283871.5:p.His292Arg
ENST00000470321.1:n.215A>G
ENST00000475447.2:c.303A>G
ENST00000492108.5:c.281A>G	ENSP00000419838.1:p.His94Arg
ENST00000494453.1:c.295A>G
XM_005247412.1:c.650A>G	XP_005247469.1:p.His217Arg
XM_005247412.2:c.650A>G	XP_005247469.1:p.His217Arg
XM_005247413.1:c.875A>G	XP_005247470.1:p.His292Arg
XM_005247413.2:c.875A>G	XP_005247470.1:p.His292Arg
XM_011512746.1:c.875A>G	XP_011511048.1:p.His292Arg
XM_011512746.2:c.875A>G	XP_011511048.1:p.His292Arg
XM_017006277.2:c.452A>G	XP_016861766.1:p.His151Arg