Canonical Allele Identifier: CA344975674

Gene: GGPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235342651G>A , CM000663.2:g.235342651G>A	GRCh38
NC_000001.10:g.235505966G>A , CM000663.1:g.235505966G>A	GRCh37
NC_000001.9:g.233572589G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004837.4:c.782G>A MANE Select	NP_004828.1:p.Arg261His
ENST00000282841.9:c.782G>A MANE Select	ENSP00000282841.5:p.Arg261His
NM_001037277.1:c.782G>A	NP_001032354.1:p.Arg261His
NM_001037278.2:c.620G>A	NP_001032355.1:p.Arg207His
NM_001371477.1:c.782G>A	NP_001358406.1:p.Arg261His
NM_001371478.1:c.782G>A	NP_001358407.1:p.Arg261His
NR_036605.1:n.937G>A
ENST00000358966.6:c.782G>A	ENSP00000351852.2:p.Arg261His
ENST00000391855.2:c.620G>A	ENSP00000375728.2:p.Arg207His
ENST00000488594.5:c.782G>A	ENSP00000418690.1:p.Arg261His
ENST00000642431.1:c.96-185G>A
ENST00000642503.1:c.-550+13873G>A	ENSP00000494334.1:n.-550+13873G>A
ENST00000643410.1:c.-435+7317G>A	ENSP00000495030.1:n.-435+7317G>A
ENST00000643418.1:c.-32+13873G>A	ENSP00000495711.1:n.-32+13873G>A
ENST00000643758.1:c.-550+7317G>A	ENSP00000496048.1:n.-550+7317G>A
ENST00000644055.1:c.315+305G>A	ENSP00000496307.1:n.315+305G>A
ENST00000644680.1:c.70+7317G>A	ENSP00000496173.1:n.70+7317G>A
ENST00000645069.1:c.-550+7317G>A	ENSP00000496644.1:n.-550+7317G>A
ENST00000645205.1:c.-597-185G>A	ENSP00000495823.1:n.-597-185G>A
ENST00000645351.1:c.-32+13873G>A	ENSP00000494319.1:n.-32+13873G>A
ENST00000645578.1:c.-435+7317G>A	ENSP00000496495.1:n.-435+7317G>A
ENST00000645655.1:c.-550+7317G>A	ENSP00000495202.1:n.-550+7317G>A
ENST00000645836.1:c.-435+7317G>A	ENSP00000493915.1:n.-435+7317G>A
ENST00000646281.1:c.-435+13873G>A	ENSP00000495225.1:n.-435+13873G>A
ENST00000646528.1:c.478-185G>A	ENSP00000496553.1:n.478-185G>A
ENST00000646624.1:c.-550+13873G>A	ENSP00000494575.1:n.-550+13873G>A
ENST00000647186.1:c.-435+7317G>A	ENSP00000494775.1:n.-435+7317G>A
ENST00000647428.1:c.-211+13873G>A	ENSP00000495630.1:n.-211+13873G>A