Canonical Allele Identifier: CA81783975

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641648G>T , CM000665.2:g.120641648G>T	GRCh38
NC_000003.11:g.120360495G>T , CM000665.1:g.120360495G>T	GRCh37
NC_000003.10:g.121843185G>T	NCBI36
NG_011957.1:g.45834C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.820C>A MANE Select	NP_000178.2:p.Pro274Thr
ENST00000283871.10:c.820C>A MANE Select	ENSP00000283871.5:p.Pro274Thr
NM_000187.3:c.820C>A	NP_000178.2:p.Pro274Thr
ENST00000283871.9:c.820C>A	ENSP00000283871.5:p.Pro274Thr
ENST00000470321.1:n.160C>A
ENST00000475447.2:c.248C>A
ENST00000492108.5:c.226C>A	ENSP00000419838.1:p.Pro76Thr
ENST00000494453.1:c.240C>A
XM_005247412.1:c.595C>A	XP_005247469.1:p.Pro199Thr
XM_005247412.2:c.595C>A	XP_005247469.1:p.Pro199Thr
XM_005247413.1:c.820C>A	XP_005247470.1:p.Pro274Thr
XM_005247413.2:c.820C>A	XP_005247470.1:p.Pro274Thr
XM_011512746.1:c.820C>A	XP_011511048.1:p.Pro274Thr
XM_011512746.2:c.820C>A	XP_011511048.1:p.Pro274Thr
XM_017006277.2:c.397C>A	XP_016861766.1:p.Pro133Thr