Canonical Allele Identifier: CA15106608

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155241315T>C , CM000663.2:g.155241315T>C	GRCh38
NC_000001.10:g.155211106T>C , CM000663.1:g.155211106T>C	GRCh37
NC_000001.9:g.153477730T>C	NCBI36
NG_009783.1:g.8383A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001005741.2:c.-68-135A>G	NP_001005741.1:n.-68-135A>G
NM_001005741.3:c.-68-135A>G	NP_001005741.1:n.-68-135A>G
NM_001005742.2:c.-49-154A>G	NP_001005742.1:n.-49-154A>G
NM_001005742.3:c.-49-154A>G	NP_001005742.1:n.-49-154A>G
NM_001171811.1:c.-146-1238A>G	NP_001165282.1:n.-146-1238A>G
NM_001171811.2:c.-146-1238A>G	NP_001165282.1:n.-146-1238A>G
ENST00000327247.9:c.-68-135A>G	ENSP00000314508.5:n.-68-135A>G
ENST00000428024.3:c.-146-1238A>G	ENSP00000397986.2:n.-146-1238A>G
ENST00000467918.5:n.238-135A>G
ENST00000473570.5:n.254-135A>G
ENST00000493842.5:n.271-135A>G
XM_006711270.1:c.-68-135A>G	XP_006711333.1:n.-68-135A>G
XM_011509407.1:c.-68-135A>G	XP_011507709.1:n.-68-135A>G