Canonical Allele Identifier: CA342726408

Gene: GBA1

Linked Data

• dbSNP Id: rs1353986824
• gnomAD v2: 1-155209519-G-T
• gnomAD v4: 1-155239728-G-T
• MyVariant Identifiers: chr1:g.155209519G>T (hg19) ; chr1:g.155239728G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239728G>T , CM000663.2:g.155239728G>T	GRCh38
NC_000001.10:g.155209519G>T , CM000663.1:g.155209519G>T	GRCh37
NC_000001.9:g.153476143G>T	NCBI36
NG_009783.1:g.9970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.342C>A MANE Select	ENSP00000357357.3:p.Phe114Leu
ENST00000327247.9:c.342C>A	ENSP00000314508.5:p.Phe114Leu
ENST00000368373.7:c.342C>A	ENSP00000357357.3:p.Phe114Leu
ENST00000427500.7:c.307+158C>A	ENSP00000402577.2:n.307+158C>A
ENST00000428024.3:c.81C>A	ENSP00000397986.2:p.Phe27Leu
ENST00000467918.5:n.532C>A
ENST00000473570.5:n.663C>A
ENST00000484489.5:n.339+245C>A
ENST00000493842.5:n.680C>A
ENST00000497670.5:n.77+158C>A
NM_000157.3:c.342C>A	NP_000148.2:p.Phe114Leu
NM_001005741.2:c.342C>A	NP_001005741.1:p.Phe114Leu
NM_001005742.2:c.342C>A	NP_001005742.1:p.Phe114Leu
NM_001171811.1:c.81C>A	NP_001165282.1:p.Phe27Leu
NM_001171812.1:c.307+158C>A	NP_001165283.1:n.307+158C>A
XM_006711270.1:c.342C>A	XP_006711333.1:p.Phe114Leu
XM_011509407.1:c.342C>A	XP_011507709.1:p.Phe114Leu
NM_000157.4:c.342C>A MANE Select	NP_000148.2:p.Phe114Leu
NM_001005741.3:c.342C>A	NP_001005741.1:p.Phe114Leu
NM_001005742.3:c.342C>A	NP_001005742.1:p.Phe114Leu
NM_001171811.2:c.81C>A	NP_001165282.1:p.Phe27Leu
NM_001171812.2:c.307+158C>A	NP_001165283.1:n.307+158C>A