Canonical Allele Identifier: CA2697556804

Gene: HGD

Linked Data

• ClinVar Variation Id: 2692789
• ClinVar RCV Id: RCV003500875

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675784G>A , CM000665.2:g.120675784G>A	GRCh38
NC_000003.11:g.120394631G>A , CM000665.1:g.120394631G>A	GRCh37
NC_000003.10:g.121877321G>A	NCBI36
NG_011957.1:g.11698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.87+8C>T MANE Select	ENSP00000283871.5:n.87+8C>T
ENST00000283871.9:c.87+8C>T	ENSP00000283871.5:n.87+8C>T
ENST00000466528.5:n.113+8C>T
ENST00000476082.2:c.53+8C>T	ENSP00000419560.2:n.53+8C>T
ENST00000480862.1:n.245+8C>T
ENST00000485313.5:n.195+8C>T
ENST00000488183.5:n.345+8C>T
NM_000187.3:c.87+8C>T	NP_000178.2:n.87+8C>T
XM_005247412.1:c.87+8C>T	XP_005247469.1:n.87+8C>T
XM_005247413.1:c.87+8C>T	XP_005247470.1:n.87+8C>T
XM_005247414.3:c.87+8C>T	XP_005247471.1:n.87+8C>T
XM_011512746.1:c.87+8C>T	XP_011511048.1:n.87+8C>T
XM_005247412.2:c.87+8C>T	XP_005247469.1:n.87+8C>T
XM_005247413.2:c.87+8C>T	XP_005247470.1:n.87+8C>T
XM_005247414.5:c.87+8C>T	XP_005247471.1:n.87+8C>T
XM_011512746.2:c.87+8C>T	XP_011511048.1:n.87+8C>T
XM_017006277.2:c.-337+8C>T	XP_016861766.1:n.-337+8C>T
NM_000187.4:c.87+8C>T MANE Select	NP_000178.2:n.87+8C>T