Canonical Allele Identifier: CA354073978

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641647G>A , CM000665.2:g.120641647G>A	GRCh38
NC_000003.11:g.120360494G>A , CM000665.1:g.120360494G>A	GRCh37
NC_000003.10:g.121843184G>A	NCBI36
NG_011957.1:g.45835C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.821C>T MANE Select	NP_000178.2:p.Pro274Leu
ENST00000283871.10:c.821C>T MANE Select	ENSP00000283871.5:p.Pro274Leu
NM_000187.3:c.821C>T	NP_000178.2:p.Pro274Leu
ENST00000283871.9:c.821C>T	ENSP00000283871.5:p.Pro274Leu
ENST00000470321.1:n.161C>T
ENST00000475447.2:c.249C>T
ENST00000492108.5:c.227C>T	ENSP00000419838.1:p.Pro76Leu
ENST00000494453.1:c.241C>T
XM_005247412.1:c.596C>T	XP_005247469.1:p.Pro199Leu
XM_005247412.2:c.596C>T	XP_005247469.1:p.Pro199Leu
XM_005247413.1:c.821C>T	XP_005247470.1:p.Pro274Leu
XM_005247413.2:c.821C>T	XP_005247470.1:p.Pro274Leu
XM_011512746.1:c.821C>T	XP_011511048.1:p.Pro274Leu
XM_011512746.2:c.821C>T	XP_011511048.1:p.Pro274Leu
XM_017006277.2:c.398C>T	XP_016861766.1:p.Pro133Leu