Canonical Allele Identifier: CA2581911446

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670396T>G , CM000665.2:g.120670396T>G	GRCh38
NC_000003.11:g.120389243T>G , CM000665.1:g.120389243T>G	GRCh37
NC_000003.10:g.121871933T>G	NCBI36
NG_011957.1:g.17086A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.282+31A>C MANE Select	ENSP00000283871.5:n.282+31A>C
ENST00000283871.9:c.282+31A>C	ENSP00000283871.5:n.282+31A>C
ENST00000466528.5:n.339A>C
ENST00000476082.2:c.159+31A>C	ENSP00000419560.2:n.159+31A>C
ENST00000485313.5:n.390+31A>C
ENST00000488183.5:n.540+31A>C
NM_000187.3:c.282+31A>C	NP_000178.2:n.282+31A>C
XM_005247412.1:c.282+31A>C	XP_005247469.1:n.282+31A>C
XM_005247413.1:c.282+31A>C	XP_005247470.1:n.282+31A>C
XM_005247414.3:c.282+31A>C	XP_005247471.1:n.282+31A>C
XM_011512746.1:c.282+31A>C	XP_011511048.1:n.282+31A>C
XM_005247412.2:c.282+31A>C	XP_005247469.1:n.282+31A>C
XM_005247413.2:c.282+31A>C	XP_005247470.1:n.282+31A>C
XM_005247414.5:c.282+31A>C	XP_005247471.1:n.282+31A>C
XM_011512746.2:c.282+31A>C	XP_011511048.1:n.282+31A>C
XM_017006277.2:c.-142+31A>C	XP_016861766.1:n.-142+31A>C
NM_000187.4:c.282+31A>C MANE Select	NP_000178.2:n.282+31A>C