Canonical Allele Identifier: CA1397096532

Gene: HGD

Linked Data

• dbSNP Id: rs1941156149

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646246dup , CM000665.2:g.120646246dup	GRCh38
NC_000003.11:g.120365093dup , CM000665.1:g.120365093dup	GRCh37
NC_000003.10:g.121847783dup	NCBI36
NG_011957.1:g.41236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+21dup MANE Select	ENSP00000283871.5:n.649+21dup
ENST00000283871.9:c.649+21dup	ENSP00000283871.5:n.649+21dup
ENST00000475447.2:c.180+21dup
ENST00000492108.5:c.180+727dup	ENSP00000419838.1:n.180+727dup
ENST00000494453.1:c.69+21dup
NM_000187.3:c.649+21dup	NP_000178.2:n.649+21dup
XM_005247412.1:c.549+727dup	XP_005247469.1:n.549+727dup
XM_005247413.1:c.649+21dup	XP_005247470.1:n.649+21dup
XM_005247414.3:c.649+21dup	XP_005247471.1:n.649+21dup
XM_011512746.1:c.649+21dup	XP_011511048.1:n.649+21dup
XM_005247412.2:c.549+727dup	XP_005247469.1:n.549+727dup
XM_005247413.2:c.649+21dup	XP_005247470.1:n.649+21dup
XM_005247414.5:c.649+21dup	XP_005247471.1:n.649+21dup
XM_011512746.2:c.649+21dup	XP_011511048.1:n.649+21dup
XM_017006277.2:c.226+21dup	XP_016861766.1:n.226+21dup
NM_000187.4:c.649+21dup MANE Select	NP_000178.2:n.649+21dup