Canonical Allele Identifier: CA1141735

Gene: GBA1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238629C>G , CM000663.2:g.155238629C>G	GRCh38
NC_000001.10:g.155208420C>G , CM000663.1:g.155208420C>G	GRCh37
NC_000001.9:g.153475044C>G	NCBI36
NG_009783.1:g.11069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.476G>C MANE Select	ENSP00000357357.3:p.Arg159Pro
ENST00000327247.9:c.476G>C	ENSP00000314508.5:p.Arg159Pro
ENST00000368373.7:c.476G>C	ENSP00000357357.3:p.Arg159Pro
ENST00000427500.7:c.329G>C	ENSP00000402577.2:p.Arg110Pro
ENST00000428024.3:c.215G>C	ENSP00000397986.2:p.Arg72Pro
ENST00000460156.1:n.263G>C
ENST00000473570.5:n.797G>C
ENST00000484489.5:n.339+1344G>C
ENST00000491081.5:n.81G>C
ENST00000493842.5:n.814G>C
ENST00000497670.5:n.99G>C
NM_000157.3:c.476G>C	NP_000148.2:p.Arg159Pro
NM_001005741.2:c.476G>C	NP_001005741.1:p.Arg159Pro
NM_001005742.2:c.476G>C	NP_001005742.1:p.Arg159Pro
NM_001171811.1:c.215G>C	NP_001165282.1:p.Arg72Pro
NM_001171812.1:c.329G>C	NP_001165283.1:p.Arg110Pro
XM_006711270.1:c.476G>C	XP_006711333.1:p.Arg159Pro
XM_011509407.1:c.476G>C	XP_011507709.1:p.Arg159Pro
NM_000157.4:c.476G>C MANE Select	NP_000148.2:p.Arg159Pro
NM_001005741.3:c.476G>C	NP_001005741.1:p.Arg159Pro
NM_001005742.3:c.476G>C	NP_001005742.1:p.Arg159Pro
NM_001171811.2:c.215G>C	NP_001165282.1:p.Arg72Pro
NM_001171812.2:c.329G>C	NP_001165283.1:p.Arg110Pro