Canonical Allele Identifier: CA354078514

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120652600A>C , CM000665.2:g.120652600A>C	GRCh38
NC_000003.11:g.120371447A>C , CM000665.1:g.120371447A>C	GRCh37
NC_000003.10:g.121854137A>C	NCBI36
NG_011957.1:g.34882T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.334T>G MANE Select	NP_000178.2:p.Phe112Val
ENST00000283871.10:c.334T>G MANE Select	ENSP00000283871.5:p.Phe112Val
NM_000187.3:c.334T>G	NP_000178.2:p.Phe112Val
ENST00000283871.9:c.334T>G	ENSP00000283871.5:p.Phe112Val
ENST00000476082.2:c.211T>G	ENSP00000419560.2:p.Phe71Val
ENST00000485313.5:n.442T>G
XM_005247412.1:c.334T>G	XP_005247469.1:p.Phe112Val
XM_005247412.2:c.334T>G	XP_005247469.1:p.Phe112Val
XM_005247413.1:c.334T>G	XP_005247470.1:p.Phe112Val
XM_005247413.2:c.334T>G	XP_005247470.1:p.Phe112Val
XM_005247414.3:c.334T>G	XP_005247471.1:p.Phe112Val
XM_005247414.5:c.334T>G	XP_005247471.1:p.Phe112Val
XM_011512746.1:c.334T>G	XP_011511048.1:p.Phe112Val
XM_011512746.2:c.334T>G	XP_011511048.1:p.Phe112Val
XM_017006277.2:c.-90T>G	XP_016861766.1:n.-90T>G