Canonical Allele Identifier: CA2667172661

Gene: HGD

Linked Data

• ClinVar Variation Id: 2882821
• ClinVar RCV Id: RCV003608523
• gnomAD v4: 3-120670536-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670536G>A , CM000665.2:g.120670536G>A	GRCh38
NC_000003.11:g.120389383G>A , CM000665.1:g.120389383G>A	GRCh37
NC_000003.10:g.121872073G>A	NCBI36
NG_011957.1:g.16946C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.177-4C>T MANE Select	ENSP00000283871.5:n.177-4C>T
ENST00000283871.9:c.177-4C>T	ENSP00000283871.5:n.177-4C>T
ENST00000466528.5:n.203-4C>T
ENST00000476082.2:c.54-4C>T	ENSP00000419560.2:n.54-4C>T
ENST00000485313.5:n.285-4C>T
ENST00000488183.5:n.435-4C>T
NM_000187.3:c.177-4C>T	NP_000178.2:n.177-4C>T
XM_005247412.1:c.177-4C>T	XP_005247469.1:n.177-4C>T
XM_005247413.1:c.177-4C>T	XP_005247470.1:n.177-4C>T
XM_005247414.3:c.177-4C>T	XP_005247471.1:n.177-4C>T
XM_011512746.1:c.177-4C>T	XP_011511048.1:n.177-4C>T
XM_005247412.2:c.177-4C>T	XP_005247469.1:n.177-4C>T
XM_005247413.2:c.177-4C>T	XP_005247470.1:n.177-4C>T
XM_005247414.5:c.177-4C>T	XP_005247471.1:n.177-4C>T
XM_011512746.2:c.177-4C>T	XP_011511048.1:n.177-4C>T
XM_017006277.2:c.-247-4C>T	XP_016861766.1:n.-247-4C>T
NM_000187.4:c.177-4C>T MANE Select	NP_000178.2:n.177-4C>T