Canonical Allele Identifier: CA2667172624

Gene: HGD

Linked Data

• gnomAD v4: 3-120670370-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670370T>C , CM000665.2:g.120670370T>C	GRCh38
NC_000003.11:g.120389217T>C , CM000665.1:g.120389217T>C	GRCh37
NC_000003.10:g.121871907T>C	NCBI36
NG_011957.1:g.17112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.282+57A>G MANE Select	ENSP00000283871.5:n.282+57A>G
ENST00000283871.9:c.282+57A>G	ENSP00000283871.5:n.282+57A>G
ENST00000466528.5:n.365A>G
ENST00000476082.2:c.159+57A>G	ENSP00000419560.2:n.159+57A>G
ENST00000485313.5:n.390+57A>G
ENST00000488183.5:n.540+57A>G
NM_000187.3:c.282+57A>G	NP_000178.2:n.282+57A>G
XM_005247412.1:c.282+57A>G	XP_005247469.1:n.282+57A>G
XM_005247413.1:c.282+57A>G	XP_005247470.1:n.282+57A>G
XM_005247414.3:c.282+57A>G	XP_005247471.1:n.282+57A>G
XM_011512746.1:c.282+57A>G	XP_011511048.1:n.282+57A>G
XM_005247412.2:c.282+57A>G	XP_005247469.1:n.282+57A>G
XM_005247413.2:c.282+57A>G	XP_005247470.1:n.282+57A>G
XM_005247414.5:c.282+57A>G	XP_005247471.1:n.282+57A>G
XM_011512746.2:c.282+57A>G	XP_011511048.1:n.282+57A>G
XM_017006277.2:c.-142+57A>G	XP_016861766.1:n.-142+57A>G
NM_000187.4:c.282+57A>G MANE Select	NP_000178.2:n.282+57A>G