Canonical Allele Identifier: CA435227591

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641637G>A , CM000665.2:g.120641637G>A	GRCh38
NC_000003.11:g.120360484G>A , CM000665.1:g.120360484G>A	GRCh37
NC_000003.10:g.121843174G>A	NCBI36
NG_011957.1:g.45845C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.831C>T MANE Select	NP_000178.2:p.Tyr277=
ENST00000283871.10:c.831C>T MANE Select	ENSP00000283871.5:p.Tyr277=
NM_000187.3:c.831C>T	NP_000178.2:p.Tyr277=
ENST00000283871.9:c.831C>T	ENSP00000283871.5:p.Tyr277=
ENST00000470321.1:n.171C>T
ENST00000475447.2:c.259C>T
ENST00000492108.5:c.237C>T	ENSP00000419838.1:p.Tyr79=
ENST00000494453.1:c.251C>T
XM_005247412.1:c.606C>T	XP_005247469.1:p.Tyr202=
XM_005247412.2:c.606C>T	XP_005247469.1:p.Tyr202=
XM_005247413.1:c.831C>T	XP_005247470.1:p.Tyr277=
XM_005247413.2:c.831C>T	XP_005247470.1:p.Tyr277=
XM_011512746.1:c.831C>T	XP_011511048.1:p.Tyr277=
XM_011512746.2:c.831C>T	XP_011511048.1:p.Tyr277=
XM_017006277.2:c.408C>T	XP_016861766.1:p.Tyr136=