Canonical Allele Identifier: CA354076912

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646981C>A , CM000665.2:g.120646981C>A	GRCh38
NC_000003.11:g.120365828C>A , CM000665.1:g.120365828C>A	GRCh37
NC_000003.10:g.121848518C>A	NCBI36
NG_011957.1:g.40501G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.541G>T MANE Select	NP_000178.2:p.Val181Phe
ENST00000283871.10:c.541G>T MANE Select	ENSP00000283871.5:p.Val181Phe
NM_000187.3:c.541G>T	NP_000178.2:p.Val181Phe
ENST00000283871.9:c.541G>T	ENSP00000283871.5:p.Val181Phe
ENST00000475447.2:c.72G>T
ENST00000476082.2:c.418G>T	ENSP00000419560.2:p.Val140Phe
ENST00000492108.5:c.172G>T	ENSP00000419838.1:p.Val58Phe
XM_005247412.1:c.541G>T	XP_005247469.1:p.Val181Phe
XM_005247412.2:c.541G>T	XP_005247469.1:p.Val181Phe
XM_005247413.1:c.541G>T	XP_005247470.1:p.Val181Phe
XM_005247413.2:c.541G>T	XP_005247470.1:p.Val181Phe
XM_005247414.3:c.541G>T	XP_005247471.1:p.Val181Phe
XM_005247414.5:c.541G>T	XP_005247471.1:p.Val181Phe
XM_011512746.1:c.541G>T	XP_011511048.1:p.Val181Phe
XM_011512746.2:c.541G>T	XP_011511048.1:p.Val181Phe
XM_017006277.2:c.118G>T	XP_016861766.1:p.Val40Phe