Canonical Allele Identifier: CA1397096657

Gene: HGD

Linked Data

• dbSNP Id: rs1022709530

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646527dup , CM000665.2:g.120646527dup	GRCh38
NC_000003.11:g.120365374dup , CM000665.1:g.120365374dup	GRCh37
NC_000003.10:g.121848064dup	NCBI36
NG_011957.1:g.40961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-155dup MANE Select	ENSP00000283871.5:n.550-155dup
ENST00000283871.9:c.550-155dup	ENSP00000283871.5:n.550-155dup
ENST00000475447.2:c.81-155dup
ENST00000492108.5:c.180+452dup	ENSP00000419838.1:n.180+452dup
NM_000187.3:c.550-155dup	NP_000178.2:n.550-155dup
XM_005247412.1:c.549+452dup	XP_005247469.1:n.549+452dup
XM_005247413.1:c.550-155dup	XP_005247470.1:n.550-155dup
XM_005247414.3:c.550-155dup	XP_005247471.1:n.550-155dup
XM_011512746.1:c.550-155dup	XP_011511048.1:n.550-155dup
XM_005247412.2:c.549+452dup	XP_005247469.1:n.549+452dup
XM_005247413.2:c.550-155dup	XP_005247470.1:n.550-155dup
XM_005247414.5:c.550-155dup	XP_005247471.1:n.550-155dup
XM_011512746.2:c.550-155dup	XP_011511048.1:n.550-155dup
XM_017006277.2:c.127-155dup	XP_016861766.1:n.127-155dup
NM_000187.4:c.550-155dup MANE Select	NP_000178.2:n.550-155dup