Canonical Allele Identifier: CA1141782

Gene: GBA1

Linked Data

• dbSNP Id: rs1262629164
• ExAC: 1:155209604 A / G
• gnomAD v2: 1-155209604-A-G
• gnomAD v3: 1-155239813-A-G
• gnomAD v4: 1-155239813-A-G
• MyVariant Identifiers: chr1:g.155209604A>G (hg19) ; chr1:g.155209604_155209614delinsGTGGTGATCAC (hg19) ; chr1:g.155239813A>G (hg38) ; chr1:g.155239813_155239823delinsGTGGTGATCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239813A>G , CM000663.2:g.155239813A>G	GRCh38
NC_000001.10:g.155209604A>G , CM000663.1:g.155209604A>G	GRCh37
NC_000001.9:g.153476228A>G	NCBI36
NG_009783.1:g.9885T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.308-51T>C MANE Select	ENSP00000357357.3:n.308-51T>C
ENST00000327247.9:c.308-51T>C	ENSP00000314508.5:n.308-51T>C
ENST00000368373.7:c.308-51T>C	ENSP00000357357.3:n.308-51T>C
ENST00000427500.7:c.307+73T>C	ENSP00000402577.2:n.307+73T>C
ENST00000428024.3:c.47-51T>C	ENSP00000397986.2:n.47-51T>C
ENST00000467918.5:n.498-51T>C
ENST00000473570.5:n.629-51T>C
ENST00000484489.5:n.339+160T>C
ENST00000493842.5:n.646-51T>C
ENST00000497670.5:n.77+73T>C
NM_000157.3:c.308-51T>C	NP_000148.2:n.308-51T>C
NM_001005741.2:c.308-51T>C	NP_001005741.1:n.308-51T>C
NM_001005742.2:c.308-51T>C	NP_001005742.1:n.308-51T>C
NM_001171811.1:c.47-51T>C	NP_001165282.1:n.47-51T>C
NM_001171812.1:c.307+73T>C	NP_001165283.1:n.307+73T>C
XM_006711270.1:c.308-51T>C	XP_006711333.1:n.308-51T>C
XM_011509407.1:c.308-51T>C	XP_011507709.1:n.308-51T>C
NM_000157.4:c.308-51T>C MANE Select	NP_000148.2:n.308-51T>C
NM_001005741.3:c.308-51T>C	NP_001005741.1:n.308-51T>C
NM_001005742.3:c.308-51T>C	NP_001005742.1:n.308-51T>C
NM_001171811.2:c.47-51T>C	NP_001165282.1:n.47-51T>C
NM_001171812.2:c.307+73T>C	NP_001165283.1:n.307+73T>C