Canonical Allele Identifier: CA1141763

Gene: GBA1

Linked Data

• dbSNP Id: rs79175920
• ExAC: 1:155209474 A / T
• gnomAD v2: 1-155209474-A-T
• gnomAD v3: 1-155239683-A-T
• gnomAD v4: 1-155239683-A-T
• MyVariant Identifiers: chr1:g.155209474A>T (hg19) ; chr1:g.155239683A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239683A>T , CM000663.2:g.155239683A>T	GRCh38
NC_000001.10:g.155209474A>T , CM000663.1:g.155209474A>T	GRCh37
NC_000001.9:g.153476098A>T	NCBI36
NG_009783.1:g.10015T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.387T>A MANE Select	ENSP00000357357.3:p.Ala129=
ENST00000327247.9:c.387T>A	ENSP00000314508.5:p.Ala129=
ENST00000368373.7:c.387T>A	ENSP00000357357.3:p.Ala129=
ENST00000427500.7:c.307+203T>A	ENSP00000402577.2:n.307+203T>A
ENST00000428024.3:c.126T>A	ENSP00000397986.2:p.Ala42=
ENST00000467918.5:n.577T>A
ENST00000473570.5:n.708T>A
ENST00000484489.5:n.339+290T>A
ENST00000493842.5:n.725T>A
ENST00000497670.5:n.77+203T>A
NM_000157.3:c.387T>A	NP_000148.2:p.Ala129=
NM_001005741.2:c.387T>A	NP_001005741.1:p.Ala129=
NM_001005742.2:c.387T>A	NP_001005742.1:p.Ala129=
NM_001171811.1:c.126T>A	NP_001165282.1:p.Ala42=
NM_001171812.1:c.307+203T>A	NP_001165283.1:n.307+203T>A
XM_006711270.1:c.387T>A	XP_006711333.1:p.Ala129=
XM_011509407.1:c.387T>A	XP_011507709.1:p.Ala129=
NM_000157.4:c.387T>A MANE Select	NP_000148.2:p.Ala129=
NM_001005741.3:c.387T>A	NP_001005741.1:p.Ala129=
NM_001005742.3:c.387T>A	NP_001005742.1:p.Ala129=
NM_001171811.2:c.126T>A	NP_001165282.1:p.Ala42=
NM_001171812.2:c.307+203T>A	NP_001165283.1:n.307+203T>A