Canonical Allele Identifier: CA245985

Gene: GBA1

Linked Data

• ClinVar Variation Id: 197702
• ClinVar RCV Id: RCV000178814 ; RCV001249027 ; RCV001808455 ; RCV004020131
• dbSNP Id: rs758447515
• ExAC: 1:155209424 G / A
• gnomAD v2: 1-155209424-G-A
• gnomAD v4: 1-155239633-G-A
• COSMIC: COSM5377831
• MyVariant Identifiers: chr1:g.155209424G>A (hg19) ; chr1:g.155239633G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239633G>A , CM000663.2:g.155239633G>A	GRCh38
NC_000001.10:g.155209424G>A , CM000663.1:g.155209424G>A	GRCh37
NC_000001.9:g.153476048G>A	NCBI36
NG_009783.1:g.10065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.437C>T MANE Select	ENSP00000357357.3:p.Ser146Leu
ENST00000327247.9:c.437C>T	ENSP00000314508.5:p.Ser146Leu
ENST00000368373.7:c.437C>T	ENSP00000357357.3:p.Ser146Leu
ENST00000427500.7:c.307+253C>T	ENSP00000402577.2:n.307+253C>T
ENST00000428024.3:c.176C>T	ENSP00000397986.2:p.Ser59Leu
ENST00000473570.5:n.758C>T
ENST00000484489.5:n.339+340C>T
ENST00000493842.5:n.775C>T
ENST00000497670.5:n.77+253C>T
NM_000157.3:c.437C>T	NP_000148.2:p.Ser146Leu
NM_001005741.2:c.437C>T	NP_001005741.1:p.Ser146Leu
NM_001005742.2:c.437C>T	NP_001005742.1:p.Ser146Leu
NM_001171811.1:c.176C>T	NP_001165282.1:p.Ser59Leu
NM_001171812.1:c.307+253C>T	NP_001165283.1:n.307+253C>T
XM_006711270.1:c.437C>T	XP_006711333.1:p.Ser146Leu
XM_011509407.1:c.437C>T	XP_011507709.1:p.Ser146Leu
NM_000157.4:c.437C>T MANE Select	NP_000148.2:p.Ser146Leu
NM_001005741.3:c.437C>T	NP_001005741.1:p.Ser146Leu
NM_001005742.3:c.437C>T	NP_001005742.1:p.Ser146Leu
NM_001171811.2:c.176C>T	NP_001165282.1:p.Ser59Leu
NM_001171812.2:c.307+253C>T	NP_001165283.1:n.307+253C>T