Canonical Allele Identifier: CA889658901

Gene: GBA1

Linked Data

• dbSNP Id: rs1192185113
• MyVariant Identifiers: chr1:g.155205982A>G (hg19) ; chr1:g.155236191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236191A>G , CM000663.2:g.155236191A>G	GRCh38
NC_000001.10:g.155205982A>G , CM000663.1:g.155205982A>G	GRCh37
NC_000001.9:g.153472606A>G	NCBI36
NG_009783.1:g.13507T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1224+54T>C MANE Select	ENSP00000357357.3:n.1224+54T>C
ENST00000327247.9:c.1224+54T>C	ENSP00000314508.5:n.1224+54T>C
ENST00000368373.7:c.1224+54T>C	ENSP00000357357.3:n.1224+54T>C
ENST00000427500.7:c.1077+54T>C	ENSP00000402577.2:n.1077+54T>C
ENST00000428024.3:c.963+54T>C	ENSP00000397986.2:n.963+54T>C
ENST00000478472.1:n.215+54T>C
ENST00000484489.5:n.383+54T>C
ENST00000491081.5:n.883T>C
NM_000157.3:c.1224+54T>C	NP_000148.2:n.1224+54T>C
NM_001005741.2:c.1224+54T>C	NP_001005741.1:n.1224+54T>C
NM_001005742.2:c.1224+54T>C	NP_001005742.1:n.1224+54T>C
NM_001171811.1:c.963+54T>C	NP_001165282.1:n.963+54T>C
NM_001171812.1:c.1077+54T>C	NP_001165283.1:n.1077+54T>C
XM_006711270.1:c.1224+54T>C	XP_006711333.1:n.1224+54T>C
XM_011509407.1:c.1224+54T>C	XP_011507709.1:n.1224+54T>C
NM_000157.4:c.1224+54T>C MANE Select	NP_000148.2:n.1224+54T>C
NM_001005741.3:c.1224+54T>C	NP_001005741.1:n.1224+54T>C
NM_001005742.3:c.1224+54T>C	NP_001005742.1:n.1224+54T>C
NM_001171811.2:c.963+54T>C	NP_001165282.1:n.963+54T>C
NM_001171812.2:c.1077+54T>C	NP_001165283.1:n.1077+54T>C