Canonical Allele Identifier: CA421028172

Gene: GBA1

Linked Data

• dbSNP Id: rs1315727932
• gnomAD v4: 1-155239968-G-A
• MyVariant Identifiers: chr1:g.155209759G>A (hg19) ; chr1:g.155239968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239968G>A , CM000663.2:g.155239968G>A	GRCh38
NC_000001.10:g.155209759G>A , CM000663.1:g.155209759G>A	GRCh37
NC_000001.9:g.153476383G>A	NCBI36
NG_009783.1:g.9730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.225C>T MANE Select	ENSP00000357357.3:p.Thr75=
ENST00000327247.9:c.225C>T	ENSP00000314508.5:p.Thr75=
ENST00000368373.7:c.225C>T	ENSP00000357357.3:p.Thr75=
ENST00000427500.7:c.225C>T	ENSP00000402577.2:p.Thr75=
ENST00000428024.3:c.-37C>T	ENSP00000397986.2:n.-37C>T
ENST00000467918.5:n.421-6C>T
ENST00000470104.1:n.479C>T
ENST00000473570.5:n.546C>T
ENST00000484489.5:n.339+5C>T
ENST00000493842.5:n.563C>T
NM_000157.3:c.225C>T	NP_000148.2:p.Thr75=
NM_001005741.2:c.225C>T	NP_001005741.1:p.Thr75=
NM_001005742.2:c.225C>T	NP_001005742.1:p.Thr75=
NM_001171811.1:c.-37C>T	NP_001165282.1:n.-37C>T
NM_001171812.1:c.225C>T	NP_001165283.1:p.Thr75=
XM_006711270.1:c.225C>T	XP_006711333.1:p.Thr75=
XM_011509407.1:c.225C>T	XP_011507709.1:p.Thr75=
NM_000157.4:c.225C>T MANE Select	NP_000148.2:p.Thr75=
NM_001005741.3:c.225C>T	NP_001005741.1:p.Thr75=
NM_001005742.3:c.225C>T	NP_001005742.1:p.Thr75=
NM_001171811.2:c.-37C>T	NP_001165282.1:n.-37C>T
NM_001171812.2:c.225C>T	NP_001165283.1:p.Thr75=