Canonical Allele Identifier: CA354074047

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641679G>C , CM000665.2:g.120641679G>C	GRCh38
NC_000003.11:g.120360526G>C , CM000665.1:g.120360526G>C	GRCh37
NC_000003.10:g.121843216G>C	NCBI36
NG_011957.1:g.45803C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.789C>G MANE Select	NP_000178.2:p.Phe263Leu
ENST00000283871.10:c.789C>G MANE Select	ENSP00000283871.5:p.Phe263Leu
NM_000187.3:c.789C>G	NP_000178.2:p.Phe263Leu
ENST00000283871.9:c.789C>G	ENSP00000283871.5:p.Phe263Leu
ENST00000470321.1:n.129C>G
ENST00000475447.2:c.217C>G
ENST00000492108.5:c.195C>G	ENSP00000419838.1:p.Phe65Leu
ENST00000494453.1:c.209C>G
XM_005247412.1:c.564C>G	XP_005247469.1:p.Phe188Leu
XM_005247412.2:c.564C>G	XP_005247469.1:p.Phe188Leu
XM_005247413.1:c.789C>G	XP_005247470.1:p.Phe263Leu
XM_005247413.2:c.789C>G	XP_005247470.1:p.Phe263Leu
XM_011512746.1:c.789C>G	XP_011511048.1:p.Phe263Leu
XM_011512746.2:c.789C>G	XP_011511048.1:p.Phe263Leu
XM_017006277.2:c.366C>G	XP_016861766.1:p.Phe122Leu