Canonical Allele Identifier: CA2758137966

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674801G>C , CM000665.2:g.120674801G>C	GRCh38
NC_000003.11:g.120393648G>C , CM000665.1:g.120393648G>C	GRCh37
NC_000003.10:g.121876338G>C	NCBI36
NG_011957.1:g.12681C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.176+100C>G MANE Select	ENSP00000283871.5:n.176+100C>G
ENST00000283871.9:c.176+100C>G	ENSP00000283871.5:n.176+100C>G
ENST00000466528.5:n.202+100C>G
ENST00000476082.2:c.53+991C>G	ENSP00000419560.2:n.53+991C>G
ENST00000480862.1:n.434C>G
ENST00000485313.5:n.284+100C>G
ENST00000488183.5:n.434+100C>G
NM_000187.3:c.176+100C>G	NP_000178.2:n.176+100C>G
XM_005247412.1:c.176+100C>G	XP_005247469.1:n.176+100C>G
XM_005247413.1:c.176+100C>G	XP_005247470.1:n.176+100C>G
XM_005247414.3:c.176+100C>G	XP_005247471.1:n.176+100C>G
XM_011512746.1:c.176+100C>G	XP_011511048.1:n.176+100C>G
XM_005247412.2:c.176+100C>G	XP_005247469.1:n.176+100C>G
XM_005247413.2:c.176+100C>G	XP_005247470.1:n.176+100C>G
XM_005247414.5:c.176+100C>G	XP_005247471.1:n.176+100C>G
XM_011512746.2:c.176+100C>G	XP_011511048.1:n.176+100C>G
XM_017006277.2:c.-248+100C>G	XP_016861766.1:n.-248+100C>G
NM_000187.4:c.176+100C>G MANE Select	NP_000178.2:n.176+100C>G