Canonical Allele Identifier: CA354081408

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670490A>T , CM000665.2:g.120670490A>T	GRCh38
NC_000003.11:g.120389337A>T , CM000665.1:g.120389337A>T	GRCh37
NC_000003.10:g.121872027A>T	NCBI36
NG_011957.1:g.16992T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.219T>A MANE Select	NP_000178.2:p.Phe73Leu
ENST00000283871.10:c.219T>A MANE Select	ENSP00000283871.5:p.Phe73Leu
NM_000187.3:c.219T>A	NP_000178.2:p.Phe73Leu
ENST00000283871.9:c.219T>A	ENSP00000283871.5:p.Phe73Leu
ENST00000466528.5:n.245T>A
ENST00000476082.2:c.96T>A	ENSP00000419560.2:p.Phe32Leu
ENST00000485313.5:n.327T>A
ENST00000488183.5:n.477T>A
XM_005247412.1:c.219T>A	XP_005247469.1:p.Phe73Leu
XM_005247412.2:c.219T>A	XP_005247469.1:p.Phe73Leu
XM_005247413.1:c.219T>A	XP_005247470.1:p.Phe73Leu
XM_005247413.2:c.219T>A	XP_005247470.1:p.Phe73Leu
XM_005247414.3:c.219T>A	XP_005247471.1:p.Phe73Leu
XM_005247414.5:c.219T>A	XP_005247471.1:p.Phe73Leu
XM_011512746.1:c.219T>A	XP_011511048.1:p.Phe73Leu
XM_011512746.2:c.219T>A	XP_011511048.1:p.Phe73Leu
XM_017006277.2:c.-205T>A	XP_016861766.1:n.-205T>A