Canonical Allele Identifier: CA1052825046

Gene: HGD

Linked Data

• dbSNP Id: rs1941372358
• gnomAD v3: 3-120652491-G-A
• gnomAD v4: 3-120652491-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120652491G>A , CM000665.2:g.120652491G>A	GRCh38
NC_000003.11:g.120371338G>A , CM000665.1:g.120371338G>A	GRCh37
NC_000003.10:g.121854028G>A	NCBI36
NG_011957.1:g.34991C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.342+101C>T MANE Select	ENSP00000283871.5:n.342+101C>T
ENST00000283871.9:c.342+101C>T	ENSP00000283871.5:n.342+101C>T
ENST00000476082.2:c.219+101C>T	ENSP00000419560.2:n.219+101C>T
ENST00000485313.5:n.450+101C>T
NM_000187.3:c.342+101C>T	NP_000178.2:n.342+101C>T
XM_005247412.1:c.342+101C>T	XP_005247469.1:n.342+101C>T
XM_005247413.1:c.342+101C>T	XP_005247470.1:n.342+101C>T
XM_005247414.3:c.342+101C>T	XP_005247471.1:n.342+101C>T
XM_011512746.1:c.342+101C>T	XP_011511048.1:n.342+101C>T
XM_005247412.2:c.342+101C>T	XP_005247469.1:n.342+101C>T
XM_005247413.2:c.342+101C>T	XP_005247470.1:n.342+101C>T
XM_005247414.5:c.342+101C>T	XP_005247471.1:n.342+101C>T
XM_011512746.2:c.342+101C>T	XP_011511048.1:n.342+101C>T
XM_017006277.2:c.-82+101C>T	XP_016861766.1:n.-82+101C>T
NM_000187.4:c.342+101C>T MANE Select	NP_000178.2:n.342+101C>T