Canonical Allele Identifier: CA81810313

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674947G>A , CM000665.2:g.120674947G>A	GRCh38
NC_000003.11:g.120393794G>A , CM000665.1:g.120393794G>A	GRCh37
NC_000003.10:g.121876484G>A	NCBI36
NG_011957.1:g.12535C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.130C>T MANE Select	NP_000178.2:p.Leu44Phe
ENST00000283871.10:c.130C>T MANE Select	ENSP00000283871.5:p.Leu44Phe
NM_000187.3:c.130C>T	NP_000178.2:p.Leu44Phe
ENST00000283871.9:c.130C>T	ENSP00000283871.5:p.Leu44Phe
ENST00000466528.5:n.156C>T
ENST00000476082.2:c.53+845C>T	ENSP00000419560.2:n.53+845C>T
ENST00000480862.1:n.288C>T
ENST00000485313.5:n.238C>T
ENST00000488183.5:n.388C>T
XM_005247412.1:c.130C>T	XP_005247469.1:p.Leu44Phe
XM_005247412.2:c.130C>T	XP_005247469.1:p.Leu44Phe
XM_005247413.1:c.130C>T	XP_005247470.1:p.Leu44Phe
XM_005247413.2:c.130C>T	XP_005247470.1:p.Leu44Phe
XM_005247414.3:c.130C>T	XP_005247471.1:p.Leu44Phe
XM_005247414.5:c.130C>T	XP_005247471.1:p.Leu44Phe
XM_011512746.1:c.130C>T	XP_011511048.1:p.Leu44Phe
XM_011512746.2:c.130C>T	XP_011511048.1:p.Leu44Phe
XM_017006277.2:c.-294C>T	XP_016861766.1:n.-294C>T