Canonical Allele Identifier: CA1141574

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235847A>G , CM000663.2:g.155235847A>G	GRCh38
NC_000001.10:g.155205638A>G , CM000663.1:g.155205638A>G	GRCh37
NC_000001.9:g.153472262A>G	NCBI36
NG_009783.1:g.13851T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.1225-3T>C MANE Select	NP_000148.2:n.1225-3T>C
ENST00000368373.8:c.1225-3T>C MANE Select	ENSP00000357357.3:n.1225-3T>C
NM_000157.3:c.1225-3T>C	NP_000148.2:n.1225-3T>C
NM_001005741.2:c.1225-3T>C	NP_001005741.1:n.1225-3T>C
NM_001005741.3:c.1225-3T>C	NP_001005741.1:n.1225-3T>C
NM_001005742.2:c.1225-3T>C	NP_001005742.1:n.1225-3T>C
NM_001005742.3:c.1225-3T>C	NP_001005742.1:n.1225-3T>C
NM_001171811.1:c.964-3T>C	NP_001165282.1:n.964-3T>C
NM_001171811.2:c.964-3T>C	NP_001165282.1:n.964-3T>C
NM_001171812.1:c.1078-3T>C	NP_001165283.1:n.1078-3T>C
NM_001171812.2:c.1078-3T>C	NP_001165283.1:n.1078-3T>C
ENST00000327247.9:c.1225-3T>C	ENSP00000314508.5:n.1225-3T>C
ENST00000368373.7:c.1225-3T>C	ENSP00000357357.3:n.1225-3T>C
ENST00000427500.7:c.1078-3T>C	ENSP00000402577.2:n.1078-3T>C
ENST00000428024.3:c.964-3T>C	ENSP00000397986.2:n.964-3T>C
ENST00000478472.1:n.216-3T>C
ENST00000484489.5:n.384-3T>C
XM_006711270.1:c.1225-3T>C	XP_006711333.1:n.1225-3T>C
XM_011509407.1:c.1225-3T>C	XP_011507709.1:n.1225-3T>C