Canonical Allele Identifier: CA342725565

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155209415G>C (hg19) ; chr1:g.155239624G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239624G>C , CM000663.2:g.155239624G>C	GRCh38
NC_000001.10:g.155209415G>C , CM000663.1:g.155209415G>C	GRCh37
NC_000001.9:g.153476039G>C	NCBI36
NG_009783.1:g.10074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.446C>G MANE Select	ENSP00000357357.3:p.Ser149Cys
ENST00000327247.9:c.446C>G	ENSP00000314508.5:p.Ser149Cys
ENST00000368373.7:c.446C>G	ENSP00000357357.3:p.Ser149Cys
ENST00000427500.7:c.307+262C>G	ENSP00000402577.2:n.307+262C>G
ENST00000428024.3:c.185C>G	ENSP00000397986.2:p.Ser62Cys
ENST00000473570.5:n.767C>G
ENST00000484489.5:n.339+349C>G
ENST00000493842.5:n.784C>G
ENST00000497670.5:n.77+262C>G
NM_000157.3:c.446C>G	NP_000148.2:p.Ser149Cys
NM_001005741.2:c.446C>G	NP_001005741.1:p.Ser149Cys
NM_001005742.2:c.446C>G	NP_001005742.1:p.Ser149Cys
NM_001171811.1:c.185C>G	NP_001165282.1:p.Ser62Cys
NM_001171812.1:c.307+262C>G	NP_001165283.1:n.307+262C>G
XM_006711270.1:c.446C>G	XP_006711333.1:p.Ser149Cys
XM_011509407.1:c.446C>G	XP_011507709.1:p.Ser149Cys
NM_000157.4:c.446C>G MANE Select	NP_000148.2:p.Ser149Cys
NM_001005741.3:c.446C>G	NP_001005741.1:p.Ser149Cys
NM_001005742.3:c.446C>G	NP_001005742.1:p.Ser149Cys
NM_001171811.2:c.185C>G	NP_001165282.1:p.Ser62Cys
NM_001171812.2:c.307+262C>G	NP_001165283.1:n.307+262C>G