Canonical Allele Identifier: CA253074

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4306
• ClinVar RCV Id: RCV000004548 ; RCV000041967 ; RCV001193934 ; RCV002496255 ; RCV003137492
• dbSNP Id: rs76539814
• ExAC: 1:155206175 G / A
• gnomAD v2: 1-155206175-G-A
• gnomAD v4: 1-155236384-G-A
• MyVariant Identifiers: chr1:g.155206175G>A (hg19) ; chr1:g.155236384G>A (hg38)
• PubMed: PMID:1301953 ; PMID:22713811

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236384G>A , CM000663.2:g.155236384G>A	GRCh38
NC_000001.10:g.155206175G>A , CM000663.1:g.155206175G>A	GRCh37
NC_000001.9:g.153472799G>A	NCBI36
NG_009783.1:g.13314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1085C>T MANE Select	ENSP00000357357.3:p.Thr362Ile
ENST00000327247.9:c.1085C>T	ENSP00000314508.5:p.Thr362Ile
ENST00000368373.7:c.1085C>T	ENSP00000357357.3:p.Thr362Ile
ENST00000427500.7:c.938C>T	ENSP00000402577.2:p.Thr313Ile
ENST00000428024.3:c.824C>T	ENSP00000397986.2:p.Thr275Ile
ENST00000478472.1:n.76C>T
ENST00000484489.5:n.340-96C>T
ENST00000491081.5:n.690C>T
NM_000157.3:c.1085C>T	NP_000148.2:p.Thr362Ile
NM_001005741.2:c.1085C>T	NP_001005741.1:p.Thr362Ile
NM_001005742.2:c.1085C>T	NP_001005742.1:p.Thr362Ile
NM_001171811.1:c.824C>T	NP_001165282.1:p.Thr275Ile
NM_001171812.1:c.938C>T	NP_001165283.1:p.Thr313Ile
XM_006711270.1:c.1085C>T	XP_006711333.1:p.Thr362Ile
XM_011509407.1:c.1085C>T	XP_011507709.1:p.Thr362Ile
NM_000157.4:c.1085C>T MANE Select	NP_000148.2:p.Thr362Ile
NM_001005741.3:c.1085C>T	NP_001005741.1:p.Thr362Ile
NM_001005742.3:c.1085C>T	NP_001005742.1:p.Thr362Ile
NM_001171811.2:c.824C>T	NP_001165282.1:p.Thr275Ile
NM_001171812.2:c.938C>T	NP_001165283.1:p.Thr313Ile