Canonical Allele Identifier: CA342726700

Gene: GBA1

Linked Data

• dbSNP Id: rs1317187144
• gnomAD v2: 1-155209680-T-C
• gnomAD v4: 1-155239889-T-C
• MyVariant Identifiers: chr1:g.155209680T>C (hg19) ; chr1:g.155239889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239889T>C , CM000663.2:g.155239889T>C	GRCh38
NC_000001.10:g.155209680T>C , CM000663.1:g.155209680T>C	GRCh37
NC_000001.9:g.153476304T>C	NCBI36
NG_009783.1:g.9809A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.304A>G MANE Select	ENSP00000357357.3:p.Thr102Ala
ENST00000327247.9:c.304A>G	ENSP00000314508.5:p.Thr102Ala
ENST00000368373.7:c.304A>G	ENSP00000357357.3:p.Thr102Ala
ENST00000427500.7:c.304A>G	ENSP00000402577.2:p.Thr102Ala
ENST00000428024.3:c.43A>G	ENSP00000397986.2:p.Thr15Ala
ENST00000467918.5:n.494A>G
ENST00000473570.5:n.625A>G
ENST00000484489.5:n.339+84A>G
ENST00000493842.5:n.642A>G
ENST00000497670.5:n.74A>G
NM_000157.3:c.304A>G	NP_000148.2:p.Thr102Ala
NM_001005741.2:c.304A>G	NP_001005741.1:p.Thr102Ala
NM_001005742.2:c.304A>G	NP_001005742.1:p.Thr102Ala
NM_001171811.1:c.43A>G	NP_001165282.1:p.Thr15Ala
NM_001171812.1:c.304A>G	NP_001165283.1:p.Thr102Ala
XM_006711270.1:c.304A>G	XP_006711333.1:p.Thr102Ala
XM_011509407.1:c.304A>G	XP_011507709.1:p.Thr102Ala
NM_000157.4:c.304A>G MANE Select	NP_000148.2:p.Thr102Ala
NM_001005741.3:c.304A>G	NP_001005741.1:p.Thr102Ala
NM_001005742.3:c.304A>G	NP_001005742.1:p.Thr102Ala
NM_001171811.2:c.43A>G	NP_001165282.1:p.Thr15Ala
NM_001171812.2:c.304A>G	NP_001165283.1:p.Thr102Ala