Canonical Allele Identifier: CA913330296

Gene: GBA1

Linked Data

• dbSNP Id: rs1557900221
• gnomAD v2: 1-155204727-C-G
• gnomAD v4: 1-155234936-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155234936C>G , CM000663.2:g.155234936C>G	GRCh38
NC_000001.10:g.155204727C>G , CM000663.1:g.155204727C>G	GRCh37
NC_000001.9:g.153471351C>G	NCBI36
NG_009783.1:g.14762G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.*59G>C MANE Select	ENSP00000357357.3:n.*59G>C
ENST00000327247.9:c.*59G>C	ENSP00000314508.5:n.*59G>C
ENST00000368373.7:c.*59G>C	ENSP00000357357.3:n.*59G>C
ENST00000427500.7:c.*59G>C	ENSP00000402577.2:n.*59G>C
ENST00000428024.3:c.*59G>C	ENSP00000397986.2:n.*59G>C
ENST00000464536.1:n.191-115G>C
NM_000157.3:c.*59G>C	NP_000148.2:n.*59G>C
NM_001005741.2:c.*59G>C	NP_001005741.1:n.*59G>C
NM_001005742.2:c.*59G>C	NP_001005742.1:n.*59G>C
NM_001171811.1:c.*59G>C	NP_001165282.1:n.*59G>C
NM_001171812.1:c.*59G>C	NP_001165283.1:n.*59G>C
XM_006711270.1:c.*59G>C	XP_006711333.1:n.*59G>C
XM_011509407.1:c.*59G>C	XP_011507709.1:n.*59G>C
NM_000157.4:c.*59G>C MANE Select	NP_000148.2:n.*59G>C
NM_001005741.3:c.*59G>C	NP_001005741.1:n.*59G>C
NM_001005742.3:c.*59G>C	NP_001005742.1:n.*59G>C
NM_001171811.2:c.*59G>C	NP_001165282.1:n.*59G>C
NM_001171812.2:c.*59G>C	NP_001165283.1:n.*59G>C