Canonical Allele Identifier: CA354074023

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641668G>A , CM000665.2:g.120641668G>A	GRCh38
NC_000003.11:g.120360515G>A , CM000665.1:g.120360515G>A	GRCh37
NC_000003.10:g.121843205G>A	NCBI36
NG_011957.1:g.45814C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.800C>T MANE Select	NP_000178.2:p.Ala267Val
ENST00000283871.10:c.800C>T MANE Select	ENSP00000283871.5:p.Ala267Val
NM_000187.3:c.800C>T	NP_000178.2:p.Ala267Val
ENST00000283871.9:c.800C>T	ENSP00000283871.5:p.Ala267Val
ENST00000470321.1:n.140C>T
ENST00000475447.2:c.228C>T
ENST00000492108.5:c.206C>T	ENSP00000419838.1:p.Ala69Val
ENST00000494453.1:c.220C>T
XM_005247412.1:c.575C>T	XP_005247469.1:p.Ala192Val
XM_005247412.2:c.575C>T	XP_005247469.1:p.Ala192Val
XM_005247413.1:c.800C>T	XP_005247470.1:p.Ala267Val
XM_005247413.2:c.800C>T	XP_005247470.1:p.Ala267Val
XM_011512746.1:c.800C>T	XP_011511048.1:p.Ala267Val
XM_011512746.2:c.800C>T	XP_011511048.1:p.Ala267Val
XM_017006277.2:c.377C>T	XP_016861766.1:p.Ala126Val