Canonical Allele Identifier: CA342723760

Gene: GBA1

Linked Data

• ClinVar Variation Id: 2612233
• ClinVar RCV Id: RCV003371354
• dbSNP Id: rs1421091684
• gnomAD v2: 1-155208330-G-T
• gnomAD v4: 1-155238539-G-T
• MyVariant Identifiers: chr1:g.155208330G>T (hg19) ; chr1:g.155238539G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238539G>T , CM000663.2:g.155238539G>T	GRCh38
NC_000001.10:g.155208330G>T , CM000663.1:g.155208330G>T	GRCh37
NC_000001.9:g.153474954G>T	NCBI36
NG_009783.1:g.11159C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.566C>A MANE Select	ENSP00000357357.3:p.Pro189Gln
ENST00000327247.9:c.566C>A	ENSP00000314508.5:p.Pro189Gln
ENST00000368373.7:c.566C>A	ENSP00000357357.3:p.Pro189Gln
ENST00000427500.7:c.419C>A	ENSP00000402577.2:p.Pro140Gln
ENST00000428024.3:c.305C>A	ENSP00000397986.2:p.Pro102Gln
ENST00000460156.1:n.353C>A
ENST00000484489.5:n.339+1434C>A
ENST00000491081.5:n.171C>A
ENST00000493842.5:n.904C>A
ENST00000497670.5:n.189C>A
NM_000157.3:c.566C>A	NP_000148.2:p.Pro189Gln
NM_001005741.2:c.566C>A	NP_001005741.1:p.Pro189Gln
NM_001005742.2:c.566C>A	NP_001005742.1:p.Pro189Gln
NM_001171811.1:c.305C>A	NP_001165282.1:p.Pro102Gln
NM_001171812.1:c.419C>A	NP_001165283.1:p.Pro140Gln
XM_006711270.1:c.566C>A	XP_006711333.1:p.Pro189Gln
XM_011509407.1:c.566C>A	XP_011507709.1:p.Pro189Gln
NM_000157.4:c.566C>A MANE Select	NP_000148.2:p.Pro189Gln
NM_001005741.3:c.566C>A	NP_001005741.1:p.Pro189Gln
NM_001005742.3:c.566C>A	NP_001005742.1:p.Pro189Gln
NM_001171811.2:c.305C>A	NP_001165282.1:p.Pro102Gln
NM_001171812.2:c.419C>A	NP_001165283.1:p.Pro140Gln