Canonical Allele Identifier: CA253107

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4327
• ClinVar RCV Id: RCV000004572 ; RCV000004571 ; RCV000055772 ; RCV000723428 ; RCV001004116 ; RCV001270486 ; RCV002482828
• dbSNP Id: rs121908311
• ExAC: 1:155205614 C / T
• gnomAD v2: 1-155205614-C-T
• gnomAD v3: 1-155235823-C-T
• gnomAD v4: 1-155235823-C-T
• MyVariant Identifiers: chr1:g.155205614C>T (hg19) ; chr1:g.155235823C>T (hg38)
• PubMed: PMID:2569551 ; PMID:10466427 ; PMID:12595585 ; PMID:20301446

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235823C>T , CM000663.2:g.155235823C>T	GRCh38
NC_000001.10:g.155205614C>T , CM000663.1:g.155205614C>T	GRCh37
NC_000001.9:g.153472238C>T	NCBI36
NG_009783.1:g.13875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1246G>A MANE Select	ENSP00000357357.3:p.Gly416Ser
ENST00000327247.9:c.1246G>A	ENSP00000314508.5:p.Gly416Ser
ENST00000368373.7:c.1246G>A	ENSP00000357357.3:p.Gly416Ser
ENST00000427500.7:c.1099G>A	ENSP00000402577.2:p.Gly367Ser
ENST00000428024.3:c.985G>A	ENSP00000397986.2:p.Gly329Ser
ENST00000464536.1:n.13G>A
ENST00000478472.1:n.237G>A
ENST00000484489.5:n.405G>A
NM_000157.3:c.1246G>A	NP_000148.2:p.Gly416Ser
NM_001005741.2:c.1246G>A	NP_001005741.1:p.Gly416Ser
NM_001005742.2:c.1246G>A	NP_001005742.1:p.Gly416Ser
NM_001171811.1:c.985G>A	NP_001165282.1:p.Gly329Ser
NM_001171812.1:c.1099G>A	NP_001165283.1:p.Gly367Ser
XM_006711270.1:c.1246G>A	XP_006711333.1:p.Gly416Ser
XM_011509407.1:c.1246G>A	XP_011507709.1:p.Gly416Ser
NM_000157.4:c.1246G>A MANE Select	NP_000148.2:p.Gly416Ser
NM_001005741.3:c.1246G>A	NP_001005741.1:p.Gly416Ser
NM_001005742.3:c.1246G>A	NP_001005742.1:p.Gly416Ser
NM_001171811.2:c.985G>A	NP_001165282.1:p.Gly329Ser
NM_001171812.2:c.1099G>A	NP_001165283.1:p.Gly367Ser