Canonical Allele Identifier: CA435227590

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641634G>A , CM000665.2:g.120641634G>A	GRCh38
NC_000003.11:g.120360481G>A , CM000665.1:g.120360481G>A	GRCh37
NC_000003.10:g.121843171G>A	NCBI36
NG_011957.1:g.45848C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.834C>T MANE Select	NP_000178.2:p.Asn278=
ENST00000283871.10:c.834C>T MANE Select	ENSP00000283871.5:p.Asn278=
NM_000187.3:c.834C>T	NP_000178.2:p.Asn278=
ENST00000283871.9:c.834C>T	ENSP00000283871.5:p.Asn278=
ENST00000470321.1:n.174C>T
ENST00000475447.2:c.262C>T
ENST00000492108.5:c.240C>T	ENSP00000419838.1:p.Asn80=
ENST00000494453.1:c.254C>T
XM_005247412.1:c.609C>T	XP_005247469.1:p.Asn203=
XM_005247412.2:c.609C>T	XP_005247469.1:p.Asn203=
XM_005247413.1:c.834C>T	XP_005247470.1:p.Asn278=
XM_005247413.2:c.834C>T	XP_005247470.1:p.Asn278=
XM_011512746.1:c.834C>T	XP_011511048.1:p.Asn278=
XM_011512746.2:c.834C>T	XP_011511048.1:p.Asn278=
XM_017006277.2:c.411C>T	XP_016861766.1:p.Asn137=