Canonical Allele Identifier: CA1141598

Gene: GBA1

Linked Data

• ClinVar Variation Id: 503740
• ClinVar RCV Id: RCV000599326 ; RCV000986425 ; RCV001563762 ; RCV001834913 ; RCV002498876
• dbSNP Id: rs138498426
• ExAC: 1:155206036 C / T
• gnomAD v2: 1-155206036-C-T
• gnomAD v3: 1-155236245-C-T
• gnomAD v4: 1-155236245-C-T
• MyVariant Identifiers: chr1:g.155206036C>T (hg19) ; chr1:g.155236245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236245C>T , CM000663.2:g.155236245C>T	GRCh38
NC_000001.10:g.155206036C>T , CM000663.1:g.155206036C>T	GRCh37
NC_000001.9:g.153472660C>T	NCBI36
NG_009783.1:g.13453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1224G>A MANE Select	ENSP00000357357.3:p.Thr408=
ENST00000327247.9:c.1224G>A	ENSP00000314508.5:p.Thr408=
ENST00000368373.7:c.1224G>A	ENSP00000357357.3:p.Thr408=
ENST00000427500.7:c.1077G>A	ENSP00000402577.2:p.Thr359=
ENST00000428024.3:c.963G>A	ENSP00000397986.2:p.Thr321=
ENST00000478472.1:n.215G>A
ENST00000484489.5:n.383G>A
ENST00000491081.5:n.829G>A
NM_000157.3:c.1224G>A	NP_000148.2:p.Thr408=
NM_001005741.2:c.1224G>A	NP_001005741.1:p.Thr408=
NM_001005742.2:c.1224G>A	NP_001005742.1:p.Thr408=
NM_001171811.1:c.963G>A	NP_001165282.1:p.Thr321=
NM_001171812.1:c.1077G>A	NP_001165283.1:p.Thr359=
XM_006711270.1:c.1224G>A	XP_006711333.1:p.Thr408=
XM_011509407.1:c.1224G>A	XP_011507709.1:p.Thr408=
NM_000157.4:c.1224G>A MANE Select	NP_000148.2:p.Thr408=
NM_001005741.3:c.1224G>A	NP_001005741.1:p.Thr408=
NM_001005742.3:c.1224G>A	NP_001005742.1:p.Thr408=
NM_001171811.2:c.963G>A	NP_001165282.1:p.Thr321=
NM_001171812.2:c.1077G>A	NP_001165283.1:p.Thr359=