Canonical Allele Identifier: CA354073318

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638466G>C , CM000665.2:g.120638466G>C	GRCh38
NC_000003.11:g.120357313G>C , CM000665.1:g.120357313G>C	GRCh37
NC_000003.10:g.121840003G>C	NCBI36
NG_011957.1:g.49016C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.995C>G MANE Select	NP_000178.2:p.Pro332Arg
ENST00000283871.10:c.995C>G MANE Select	ENSP00000283871.5:p.Pro332Arg
NM_000187.3:c.995C>G	NP_000178.2:p.Pro332Arg
ENST00000283871.9:c.995C>G	ENSP00000283871.5:p.Pro332Arg
ENST00000470321.1:n.335C>G
ENST00000475447.2:c.307+3123C>G
ENST00000492108.5:c.285+3123C>G	ENSP00000419838.1:n.285+3123C>G
ENST00000494453.1:c.415C>G
XM_005247412.1:c.770C>G	XP_005247469.1:p.Pro257Arg
XM_005247412.2:c.770C>G	XP_005247469.1:p.Pro257Arg
XM_005247413.1:c.995C>G	XP_005247470.1:p.Pro332Arg
XM_005247413.2:c.995C>G	XP_005247470.1:p.Pro332Arg
XM_011512746.1:c.879+3123C>G	XP_011511048.1:n.879+3123C>G
XM_011512746.2:c.879+3123C>G	XP_011511048.1:n.879+3123C>G
XM_017006277.2:c.572C>G	XP_016861766.1:p.Pro191Arg