Canonical Allele Identifier: CA30896407

Gene: GBA1

Linked Data

• dbSNP Id: rs77834747
• MyVariant Identifiers: chr1:g.155208423A>C (hg19) ; chr1:g.155238632A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238632A>C , CM000663.2:g.155238632A>C	GRCh38
NC_000001.10:g.155208423A>C , CM000663.1:g.155208423A>C	GRCh37
NC_000001.9:g.153475047A>C	NCBI36
NG_009783.1:g.11066T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.473T>G MANE Select	ENSP00000357357.3:p.Ile158Ser
ENST00000327247.9:c.473T>G	ENSP00000314508.5:p.Ile158Ser
ENST00000368373.7:c.473T>G	ENSP00000357357.3:p.Ile158Ser
ENST00000427500.7:c.326T>G	ENSP00000402577.2:p.Ile109Ser
ENST00000428024.3:c.212T>G	ENSP00000397986.2:p.Ile71Ser
ENST00000460156.1:n.260T>G
ENST00000473570.5:n.794T>G
ENST00000484489.5:n.339+1341T>G
ENST00000491081.5:n.78T>G
ENST00000493842.5:n.811T>G
ENST00000497670.5:n.96T>G
NM_000157.3:c.473T>G	NP_000148.2:p.Ile158Ser
NM_001005741.2:c.473T>G	NP_001005741.1:p.Ile158Ser
NM_001005742.2:c.473T>G	NP_001005742.1:p.Ile158Ser
NM_001171811.1:c.212T>G	NP_001165282.1:p.Ile71Ser
NM_001171812.1:c.326T>G	NP_001165283.1:p.Ile109Ser
XM_006711270.1:c.473T>G	XP_006711333.1:p.Ile158Ser
XM_011509407.1:c.473T>G	XP_011507709.1:p.Ile158Ser
NM_000157.4:c.473T>G MANE Select	NP_000148.2:p.Ile158Ser
NM_001005741.3:c.473T>G	NP_001005741.1:p.Ile158Ser
NM_001005742.3:c.473T>G	NP_001005742.1:p.Ile158Ser
NM_001171811.2:c.212T>G	NP_001165282.1:p.Ile71Ser
NM_001171812.2:c.326T>G	NP_001165283.1:p.Ile109Ser