Canonical Allele Identifier: CA028499
Gene: GBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.155238570C>G
GRCh37 chr1:g.155208361C>G
Revel Score:
ENST00000427500 0.746
ENST00000428024 0.746
ENST00000368373 (MANE Select) 0.746
ENST00000327247 0.746
ENST00000536770 0.746
ENST00000536555 0.746
ENST00000402928 0.746
gnomAD v2:
1:155208361 C / G
gnomAD v3:
1:155238570 C / G
gnomAD v4:
chr1-155238570-C-G
Joint Max Group AF 0.00015108 (NFE)
Genomes Max Group AF 0.00024293 (NFE)
Exomes Max Group AF 0.00013972 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155238570C>G , CM000663.2:g.155238570C>G GRCh38
NC_000001.10:g.155208361C>G , CM000663.1:g.155208361C>G GRCh37
NC_000001.9:g.153474985C>G NCBI36
NG_009783.1:g.11128G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.535G>C MANE Select ENSP00000357357.3:p.Asp179His
ENST00000327247.9:c.535G>C ENSP00000314508.5:p.Asp179His
ENST00000368373.7:c.535G>C ENSP00000357357.3:p.Asp179His
ENST00000427500.7:c.388G>C ENSP00000402577.2:p.Asp130His
ENST00000428024.3:c.274G>C ENSP00000397986.2:p.Asp92His
ENST00000460156.1:n.322G>C
ENST00000473570.5:n.856G>C
ENST00000484489.5:n.339+1403G>C
ENST00000491081.5:n.140G>C
ENST00000493842.5:n.873G>C
ENST00000497670.5:n.158G>C
NM_000157.3:c.535G>C NP_000148.2:p.Asp179His
NM_001005741.2:c.535G>C NP_001005741.1:p.Asp179His
NM_001005742.2:c.535G>C NP_001005742.1:p.Asp179His
NM_001171811.1:c.274G>C NP_001165282.1:p.Asp92His
NM_001171812.1:c.388G>C NP_001165283.1:p.Asp130His
XM_006711270.1:c.535G>C XP_006711333.1:p.Asp179His
XM_011509407.1:c.535G>C XP_011507709.1:p.Asp179His
NM_000157.4:c.535G>C MANE Select NP_000148.2:p.Asp179His
NM_001005741.3:c.535G>C NP_001005741.1:p.Asp179His
NM_001005742.3:c.535G>C NP_001005742.1:p.Asp179His
NM_001171811.2:c.274G>C NP_001165282.1:p.Asp92His
NM_001171812.2:c.388G>C NP_001165283.1:p.Asp130His
Search 100 bp 5'
Search 100 bp 3'