Canonical Allele Identifier: CA221388

Gene: GBA1

Linked Data

• ClinVar Variation Id: 93447
• ClinVar RCV Id: RCV000079335 ; RCV000244995 ; RCV000416597 ; RCV001196545 ; RCV001249086
• dbSNP Id: rs75548401
• ExAC: 1:155206037 G / A
• gnomAD v2: 1-155206037-G-A
• gnomAD v3: 1-155236246-G-A
• gnomAD v4: 1-155236246-G-A
• MyVariant Identifiers: chr1:g.155206037G>A (hg19) ; chr1:g.155236246G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236246G>A , CM000663.2:g.155236246G>A	GRCh38
NC_000001.10:g.155206037G>A , CM000663.1:g.155206037G>A	GRCh37
NC_000001.9:g.153472661G>A	NCBI36
NG_009783.1:g.13452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1223C>T MANE Select	ENSP00000357357.3:p.Thr408Met
ENST00000327247.9:c.1223C>T	ENSP00000314508.5:p.Thr408Met
ENST00000368373.7:c.1223C>T	ENSP00000357357.3:p.Thr408Met
ENST00000427500.7:c.1076C>T	ENSP00000402577.2:p.Thr359Met
ENST00000428024.3:c.962C>T	ENSP00000397986.2:p.Thr321Met
ENST00000478472.1:n.214C>T
ENST00000484489.5:n.382C>T
ENST00000491081.5:n.828C>T
NM_000157.3:c.1223C>T	NP_000148.2:p.Thr408Met
NM_001005741.2:c.1223C>T	NP_001005741.1:p.Thr408Met
NM_001005742.2:c.1223C>T	NP_001005742.1:p.Thr408Met
NM_001171811.1:c.962C>T	NP_001165282.1:p.Thr321Met
NM_001171812.1:c.1076C>T	NP_001165283.1:p.Thr359Met
XM_006711270.1:c.1223C>T	XP_006711333.1:p.Thr408Met
XM_011509407.1:c.1223C>T	XP_011507709.1:p.Thr408Met
NM_000157.4:c.1223C>T MANE Select	NP_000148.2:p.Thr408Met
NM_001005741.3:c.1223C>T	NP_001005741.1:p.Thr408Met
NM_001005742.3:c.1223C>T	NP_001005742.1:p.Thr408Met
NM_001171811.2:c.962C>T	NP_001165282.1:p.Thr321Met
NM_001171812.2:c.1076C>T	NP_001165283.1:p.Thr359Met