Canonical Allele Identifier: CA2573914586

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238051G>C , CM000663.2:g.155238051G>C	GRCh38
NC_000001.10:g.155207842G>C , CM000663.1:g.155207842G>C	GRCh37
NC_000001.9:g.153474466G>C	NCBI36
NG_009783.1:g.11647C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.761+83C>G MANE Select	ENSP00000357357.3:n.761+83C>G
ENST00000327247.9:c.761+83C>G	ENSP00000314508.5:n.761+83C>G
ENST00000368373.7:c.761+83C>G	ENSP00000357357.3:n.761+83C>G
ENST00000427500.7:c.614+83C>G	ENSP00000402577.2:n.614+83C>G
ENST00000428024.3:c.500+83C>G	ENSP00000397986.2:n.500+83C>G
ENST00000460156.1:n.631C>G
ENST00000484489.5:n.340-1763C>G
ENST00000491081.5:n.366+83C>G
ENST00000497670.5:n.384+83C>G
NM_000157.3:c.761+83C>G	NP_000148.2:n.761+83C>G
NM_001005741.2:c.761+83C>G	NP_001005741.1:n.761+83C>G
NM_001005742.2:c.761+83C>G	NP_001005742.1:n.761+83C>G
NM_001171811.1:c.500+83C>G	NP_001165282.1:n.500+83C>G
NM_001171812.1:c.614+83C>G	NP_001165283.1:n.614+83C>G
XM_006711270.1:c.761+83C>G	XP_006711333.1:n.761+83C>G
XM_011509407.1:c.761+83C>G	XP_011507709.1:n.761+83C>G
NM_000157.4:c.761+83C>G MANE Select	NP_000148.2:n.761+83C>G
NM_001005741.3:c.761+83C>G	NP_001005741.1:n.761+83C>G
NM_001005742.3:c.761+83C>G	NP_001005742.1:n.761+83C>G
NM_001171811.2:c.500+83C>G	NP_001165282.1:n.500+83C>G
NM_001171812.2:c.614+83C>G	NP_001165283.1:n.614+83C>G