Canonical Allele Identifier: CA342722534

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238260G>C , CM000663.2:g.155238260G>C	GRCh38
NC_000001.10:g.155208051G>C , CM000663.1:g.155208051G>C	GRCh37
NC_000001.9:g.153474675G>C	NCBI36
NG_009783.1:g.11438C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.635C>G MANE Select	NP_000148.2:p.Ser212Ter
ENST00000368373.8:c.635C>G MANE Select	ENSP00000357357.3:p.Ser212Ter
NM_000157.3:c.635C>G	NP_000148.2:p.Ser212Ter
NM_001005741.2:c.635C>G	NP_001005741.1:p.Ser212Ter
NM_001005741.3:c.635C>G	NP_001005741.1:p.Ser212Ter
NM_001005742.2:c.635C>G	NP_001005742.1:p.Ser212Ter
NM_001005742.3:c.635C>G	NP_001005742.1:p.Ser212Ter
NM_001171811.1:c.374C>G	NP_001165282.1:p.Ser125Ter
NM_001171811.2:c.374C>G	NP_001165282.1:p.Ser125Ter
NM_001171812.1:c.488C>G	NP_001165283.1:p.Ser163Ter
NM_001171812.2:c.488C>G	NP_001165283.1:p.Ser163Ter
ENST00000327247.9:c.635C>G	ENSP00000314508.5:p.Ser212Ter
ENST00000368373.7:c.635C>G	ENSP00000357357.3:p.Ser212Ter
ENST00000427500.7:c.488C>G	ENSP00000402577.2:p.Ser163Ter
ENST00000428024.3:c.374C>G	ENSP00000397986.2:p.Ser125Ter
ENST00000460156.1:n.422C>G
ENST00000484489.5:n.339+1713C>G
ENST00000491081.5:n.240C>G
ENST00000493842.5:n.973C>G
ENST00000497670.5:n.258C>G
XM_006711270.1:c.635C>G	XP_006711333.1:p.Ser212Ter
XM_011509407.1:c.635C>G	XP_011507709.1:p.Ser212Ter