Canonical Allele Identifier: CA421027504

Gene: GBA1

Linked Data

• dbSNP Id: rs1671984611
• gnomAD v3: 1-155239899-A-G
• gnomAD v4: 1-155239899-A-G
• MyVariant Identifiers: chr1:g.155209690A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239899A>G , CM000663.2:g.155239899A>G	GRCh38
NC_000001.10:g.155209690A>G , CM000663.1:g.155209690A>G	GRCh37
NC_000001.9:g.153476314A>G	NCBI36
NG_009783.1:g.9799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.294T>C MANE Select	ENSP00000357357.3:p.Asn98=
ENST00000327247.9:c.294T>C	ENSP00000314508.5:p.Asn98=
ENST00000368373.7:c.294T>C	ENSP00000357357.3:p.Asn98=
ENST00000427500.7:c.294T>C	ENSP00000402577.2:p.Asn98=
ENST00000428024.3:c.33T>C	ENSP00000397986.2:p.Asn11=
ENST00000467918.5:n.484T>C
ENST00000473570.5:n.615T>C
ENST00000484489.5:n.339+74T>C
ENST00000493842.5:n.632T>C
ENST00000497670.5:n.64T>C
NM_000157.3:c.294T>C	NP_000148.2:p.Asn98=
NM_001005741.2:c.294T>C	NP_001005741.1:p.Asn98=
NM_001005742.2:c.294T>C	NP_001005742.1:p.Asn98=
NM_001171811.1:c.33T>C	NP_001165282.1:p.Asn11=
NM_001171812.1:c.294T>C	NP_001165283.1:p.Asn98=
XM_006711270.1:c.294T>C	XP_006711333.1:p.Asn98=
XM_011509407.1:c.294T>C	XP_011507709.1:p.Asn98=
NM_000157.4:c.294T>C MANE Select	NP_000148.2:p.Asn98=
NM_001005741.3:c.294T>C	NP_001005741.1:p.Asn98=
NM_001005742.3:c.294T>C	NP_001005742.1:p.Asn98=
NM_001171811.2:c.33T>C	NP_001165282.1:p.Asn11=
NM_001171812.2:c.294T>C	NP_001165283.1:p.Asn98=