Canonical Allele Identifier: CA30895567

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238242C>T , CM000663.2:g.155238242C>T	GRCh38
NC_000001.10:g.155208033C>T , CM000663.1:g.155208033C>T	GRCh37
NC_000001.9:g.153474657C>T	NCBI36
NG_009783.1:g.11456G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.653G>A MANE Select	NP_000148.2:p.Trp218Ter
ENST00000368373.8:c.653G>A MANE Select	ENSP00000357357.3:p.Trp218Ter
NM_000157.3:c.653G>A	NP_000148.2:p.Trp218Ter
NM_001005741.2:c.653G>A	NP_001005741.1:p.Trp218Ter
NM_001005741.3:c.653G>A	NP_001005741.1:p.Trp218Ter
NM_001005742.2:c.653G>A	NP_001005742.1:p.Trp218Ter
NM_001005742.3:c.653G>A	NP_001005742.1:p.Trp218Ter
NM_001171811.1:c.392G>A	NP_001165282.1:p.Trp131Ter
NM_001171811.2:c.392G>A	NP_001165282.1:p.Trp131Ter
NM_001171812.1:c.506G>A	NP_001165283.1:p.Trp169Ter
NM_001171812.2:c.506G>A	NP_001165283.1:p.Trp169Ter
ENST00000327247.9:c.653G>A	ENSP00000314508.5:p.Trp218Ter
ENST00000368373.7:c.653G>A	ENSP00000357357.3:p.Trp218Ter
ENST00000427500.7:c.506G>A	ENSP00000402577.2:p.Trp169Ter
ENST00000428024.3:c.392G>A	ENSP00000397986.2:p.Trp131Ter
ENST00000460156.1:n.440G>A
ENST00000484489.5:n.339+1731G>A
ENST00000491081.5:n.258G>A
ENST00000493842.5:n.991G>A
ENST00000497670.5:n.276G>A
XM_006711270.1:c.653G>A	XP_006711333.1:p.Trp218Ter
XM_011509407.1:c.653G>A	XP_011507709.1:p.Trp218Ter