Canonical Allele Identifier: CA2667173058

Gene: HGD

Linked Data

• gnomAD v4: 3-120674832-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674832A>G , CM000665.2:g.120674832A>G	GRCh38
NC_000003.11:g.120393679A>G , CM000665.1:g.120393679A>G	GRCh37
NC_000003.10:g.121876369A>G	NCBI36
NG_011957.1:g.12650T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.176+69T>C MANE Select	ENSP00000283871.5:n.176+69T>C
ENST00000283871.9:c.176+69T>C	ENSP00000283871.5:n.176+69T>C
ENST00000466528.5:n.202+69T>C
ENST00000476082.2:c.53+960T>C	ENSP00000419560.2:n.53+960T>C
ENST00000480862.1:n.403T>C
ENST00000485313.5:n.284+69T>C
ENST00000488183.5:n.434+69T>C
NM_000187.3:c.176+69T>C	NP_000178.2:n.176+69T>C
XM_005247412.1:c.176+69T>C	XP_005247469.1:n.176+69T>C
XM_005247413.1:c.176+69T>C	XP_005247470.1:n.176+69T>C
XM_005247414.3:c.176+69T>C	XP_005247471.1:n.176+69T>C
XM_011512746.1:c.176+69T>C	XP_011511048.1:n.176+69T>C
XM_005247412.2:c.176+69T>C	XP_005247469.1:n.176+69T>C
XM_005247413.2:c.176+69T>C	XP_005247470.1:n.176+69T>C
XM_005247414.5:c.176+69T>C	XP_005247471.1:n.176+69T>C
XM_011512746.2:c.176+69T>C	XP_011511048.1:n.176+69T>C
XM_017006277.2:c.-248+69T>C	XP_016861766.1:n.-248+69T>C
NM_000187.4:c.176+69T>C MANE Select	NP_000178.2:n.176+69T>C