Canonical Allele Identifier: CA342718073
Gene: GBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155236465A>T , CM000663.2:g.155236465A>T GRCh38
NC_000001.10:g.155206256A>T , CM000663.1:g.155206256A>T GRCh37
NC_000001.9:g.153472880A>T NCBI36
NG_009783.1:g.13233T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.1004T>A MANE Select ENSP00000357357.3:p.Leu335Gln
ENST00000327247.9:c.1004T>A ENSP00000314508.5:p.Leu335Gln
ENST00000368373.7:c.1004T>A ENSP00000357357.3:p.Leu335Gln
ENST00000427500.7:c.857T>A ENSP00000402577.2:p.Leu286Gln
ENST00000428024.3:c.743T>A ENSP00000397986.2:p.Leu248Gln
ENST00000484489.5:n.340-177T>A
ENST00000491081.5:n.609T>A
ENST00000497670.5:n.627T>A
NM_000157.3:c.1004T>A NP_000148.2:p.Leu335Gln
NM_001005741.2:c.1004T>A NP_001005741.1:p.Leu335Gln
NM_001005742.2:c.1004T>A NP_001005742.1:p.Leu335Gln
NM_001171811.1:c.743T>A NP_001165282.1:p.Leu248Gln
NM_001171812.1:c.857T>A NP_001165283.1:p.Leu286Gln
XM_006711270.1:c.1004T>A XP_006711333.1:p.Leu335Gln
XM_011509407.1:c.1004T>A XP_011507709.1:p.Leu335Gln
NM_000157.4:c.1004T>A MANE Select NP_000148.2:p.Leu335Gln
NM_001005741.3:c.1004T>A NP_001005741.1:p.Leu335Gln
NM_001005742.3:c.1004T>A NP_001005742.1:p.Leu335Gln
NM_001171811.2:c.743T>A NP_001165282.1:p.Leu248Gln
NM_001171812.2:c.857T>A NP_001165283.1:p.Leu286Gln