Canonical Allele Identifier: CA354081840

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674906C>A , CM000665.2:g.120674906C>A	GRCh38
NC_000003.11:g.120393753C>A , CM000665.1:g.120393753C>A	GRCh37
NC_000003.10:g.121876443C>A	NCBI36
NG_011957.1:g.12576G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.171G>T MANE Select	NP_000178.2:p.Lys57Asn
ENST00000283871.10:c.171G>T MANE Select	ENSP00000283871.5:p.Lys57Asn
NM_000187.3:c.171G>T	NP_000178.2:p.Lys57Asn
ENST00000283871.9:c.171G>T	ENSP00000283871.5:p.Lys57Asn
ENST00000466528.5:n.197G>T
ENST00000476082.2:c.53+886G>T	ENSP00000419560.2:n.53+886G>T
ENST00000480862.1:n.329G>T
ENST00000485313.5:n.279G>T
ENST00000488183.5:n.429G>T
XM_005247412.1:c.171G>T	XP_005247469.1:p.Lys57Asn
XM_005247412.2:c.171G>T	XP_005247469.1:p.Lys57Asn
XM_005247413.1:c.171G>T	XP_005247470.1:p.Lys57Asn
XM_005247413.2:c.171G>T	XP_005247470.1:p.Lys57Asn
XM_005247414.3:c.171G>T	XP_005247471.1:p.Lys57Asn
XM_005247414.5:c.171G>T	XP_005247471.1:p.Lys57Asn
XM_011512746.1:c.171G>T	XP_011511048.1:p.Lys57Asn
XM_011512746.2:c.171G>T	XP_011511048.1:p.Lys57Asn
XM_017006277.2:c.-253G>T	XP_016861766.1:n.-253G>T