Canonical Allele Identifier: CA342726461

Gene: GBA1

Linked Data

• ClinVar Variation Id: 984479
• ClinVar RCV Id: RCV001264492
• dbSNP Id: rs1671974195
• gnomAD v4: 1-155239736-G-A
• MyVariant Identifiers: chr1:g.155209527G>A (hg19) ; chr1:g.155239736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239736G>A , CM000663.2:g.155239736G>A	GRCh38
NC_000001.10:g.155209527G>A , CM000663.1:g.155209527G>A	GRCh37
NC_000001.9:g.153476151G>A	NCBI36
NG_009783.1:g.9962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.334C>T MANE Select	ENSP00000357357.3:p.Gln112Ter
ENST00000327247.9:c.334C>T	ENSP00000314508.5:p.Gln112Ter
ENST00000368373.7:c.334C>T	ENSP00000357357.3:p.Gln112Ter
ENST00000427500.7:c.307+150C>T	ENSP00000402577.2:n.307+150C>T
ENST00000428024.3:c.73C>T	ENSP00000397986.2:p.Gln25Ter
ENST00000467918.5:n.524C>T
ENST00000473570.5:n.655C>T
ENST00000484489.5:n.339+237C>T
ENST00000493842.5:n.672C>T
ENST00000497670.5:n.77+150C>T
NM_000157.3:c.334C>T	NP_000148.2:p.Gln112Ter
NM_001005741.2:c.334C>T	NP_001005741.1:p.Gln112Ter
NM_001005742.2:c.334C>T	NP_001005742.1:p.Gln112Ter
NM_001171811.1:c.73C>T	NP_001165282.1:p.Gln25Ter
NM_001171812.1:c.307+150C>T	NP_001165283.1:n.307+150C>T
XM_006711270.1:c.334C>T	XP_006711333.1:p.Gln112Ter
XM_011509407.1:c.334C>T	XP_011507709.1:p.Gln112Ter
NM_000157.4:c.334C>T MANE Select	NP_000148.2:p.Gln112Ter
NM_001005741.3:c.334C>T	NP_001005741.1:p.Gln112Ter
NM_001005742.3:c.334C>T	NP_001005742.1:p.Gln112Ter
NM_001171811.2:c.73C>T	NP_001165282.1:p.Gln25Ter
NM_001171812.2:c.307+150C>T	NP_001165283.1:n.307+150C>T