Canonical Allele Identifier: CA342727008

Gene: GBA1

Linked Data

• dbSNP Id: rs1671985725
• MyVariant Identifiers: chr1:g.155209712C>T (hg19) ; chr1:g.155239921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239921C>T , CM000663.2:g.155239921C>T	GRCh38
NC_000001.10:g.155209712C>T , CM000663.1:g.155209712C>T	GRCh37
NC_000001.9:g.153476336C>T	NCBI36
NG_009783.1:g.9777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.272G>A MANE Select	ENSP00000357357.3:p.Ser91Asn
ENST00000327247.9:c.272G>A	ENSP00000314508.5:p.Ser91Asn
ENST00000368373.7:c.272G>A	ENSP00000357357.3:p.Ser91Asn
ENST00000427500.7:c.272G>A	ENSP00000402577.2:p.Ser91Asn
ENST00000428024.3:c.11G>A	ENSP00000397986.2:p.Ser4Asn
ENST00000467918.5:n.462G>A
ENST00000473570.5:n.593G>A
ENST00000484489.5:n.339+52G>A
ENST00000493842.5:n.610G>A
ENST00000497670.5:n.42G>A
NM_000157.3:c.272G>A	NP_000148.2:p.Ser91Asn
NM_001005741.2:c.272G>A	NP_001005741.1:p.Ser91Asn
NM_001005742.2:c.272G>A	NP_001005742.1:p.Ser91Asn
NM_001171811.1:c.11G>A	NP_001165282.1:p.Ser4Asn
NM_001171812.1:c.272G>A	NP_001165283.1:p.Ser91Asn
XM_006711270.1:c.272G>A	XP_006711333.1:p.Ser91Asn
XM_011509407.1:c.272G>A	XP_011507709.1:p.Ser91Asn
NM_000157.4:c.272G>A MANE Select	NP_000148.2:p.Ser91Asn
NM_001005741.3:c.272G>A	NP_001005741.1:p.Ser91Asn
NM_001005742.3:c.272G>A	NP_001005742.1:p.Ser91Asn
NM_001171811.2:c.11G>A	NP_001165282.1:p.Ser4Asn
NM_001171812.2:c.272G>A	NP_001165283.1:p.Ser91Asn