Canonical Allele Identifier: CA435227467

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638513G>T , CM000665.2:g.120638513G>T	GRCh38
NC_000003.11:g.120357360G>T , CM000665.1:g.120357360G>T	GRCh37
NC_000003.10:g.121840050G>T	NCBI36
NG_011957.1:g.48969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.948C>A MANE Select	ENSP00000283871.5:p.Val316=
ENST00000283871.9:c.948C>A	ENSP00000283871.5:p.Val316=
ENST00000470321.1:n.288C>A
ENST00000475447.2:c.307+3076C>A
ENST00000492108.5:c.285+3076C>A	ENSP00000419838.1:n.285+3076C>A
ENST00000494453.1:c.368C>A
NM_000187.3:c.948C>A	NP_000178.2:p.Val316=
XM_005247412.1:c.723C>A	XP_005247469.1:p.Val241=
XM_005247413.1:c.948C>A	XP_005247470.1:p.Val316=
XM_011512746.1:c.879+3076C>A	XP_011511048.1:n.879+3076C>A
XM_005247412.2:c.723C>A	XP_005247469.1:p.Val241=
XM_005247413.2:c.948C>A	XP_005247470.1:p.Val316=
XM_011512746.2:c.879+3076C>A	XP_011511048.1:n.879+3076C>A
XM_017006277.2:c.525C>A	XP_016861766.1:p.Val175=
NM_000187.4:c.948C>A MANE Select	NP_000178.2:p.Val316=