Canonical Allele Identifier: CA2667171704

Gene: HGD

Linked Data

• gnomAD v4: 3-120646378-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646378A>T , CM000665.2:g.120646378A>T	GRCh38
NC_000003.11:g.120365225A>T , CM000665.1:g.120365225A>T	GRCh37
NC_000003.10:g.121847915A>T	NCBI36
NG_011957.1:g.41104T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-12T>A MANE Select	ENSP00000283871.5:n.550-12T>A
ENST00000283871.9:c.550-12T>A	ENSP00000283871.5:n.550-12T>A
ENST00000475447.2:c.81-12T>A
ENST00000492108.5:c.180+595T>A	ENSP00000419838.1:n.180+595T>A
NM_000187.3:c.550-12T>A	NP_000178.2:n.550-12T>A
XM_005247412.1:c.549+595T>A	XP_005247469.1:n.549+595T>A
XM_005247413.1:c.550-12T>A	XP_005247470.1:n.550-12T>A
XM_005247414.3:c.550-12T>A	XP_005247471.1:n.550-12T>A
XM_011512746.1:c.550-12T>A	XP_011511048.1:n.550-12T>A
XM_005247412.2:c.549+595T>A	XP_005247469.1:n.549+595T>A
XM_005247413.2:c.550-12T>A	XP_005247470.1:n.550-12T>A
XM_005247414.5:c.550-12T>A	XP_005247471.1:n.550-12T>A
XM_011512746.2:c.550-12T>A	XP_011511048.1:n.550-12T>A
XM_017006277.2:c.127-12T>A	XP_016861766.1:n.127-12T>A
NM_000187.4:c.550-12T>A MANE Select	NP_000178.2:n.550-12T>A