Canonical Allele Identifier: CA253059
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4292
dbSNP Id: rs80356769

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235772C>A , CM000663.2:g.155235772C>A GRCh38
NC_000001.10:g.155205563C>A , CM000663.1:g.155205563C>A GRCh37
NC_000001.9:g.153472187C>A NCBI36
NG_009783.1:g.13926G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.1297G>T MANE Select ENSP00000357357.3:p.Val433Leu
ENST00000327247.9:c.1297G>T ENSP00000314508.5:p.Val433Leu
ENST00000368373.7:c.1297G>T ENSP00000357357.3:p.Val433Leu
ENST00000427500.7:c.1150G>T ENSP00000402577.2:p.Val384Leu
ENST00000428024.3:c.1036G>T ENSP00000397986.2:p.Val346Leu
ENST00000464536.1:n.64G>T
ENST00000478472.1:n.288G>T
ENST00000484489.5:n.456G>T
NM_000157.3:c.1297G>T NP_000148.2:p.Val433Leu
NM_001005741.2:c.1297G>T NP_001005741.1:p.Val433Leu
NM_001005742.2:c.1297G>T NP_001005742.1:p.Val433Leu
NM_001171811.1:c.1036G>T NP_001165282.1:p.Val346Leu
NM_001171812.1:c.1150G>T NP_001165283.1:p.Val384Leu
XM_006711270.1:c.1297G>T XP_006711333.1:p.Val433Leu
XM_011509407.1:c.1297G>T XP_011507709.1:p.Val433Leu
NM_000157.4:c.1297G>T MANE Select NP_000148.2:p.Val433Leu
NM_001005741.3:c.1297G>T NP_001005741.1:p.Val433Leu
NM_001005742.3:c.1297G>T NP_001005742.1:p.Val433Leu
NM_001171811.2:c.1036G>T NP_001165282.1:p.Val346Leu
NM_001171812.2:c.1150G>T NP_001165283.1:p.Val384Leu