Canonical Allele Identifier: CA342710190

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235072T>A , CM000663.2:g.155235072T>A	GRCh38
NC_000001.10:g.155204863T>A , CM000663.1:g.155204863T>A	GRCh37
NC_000001.9:g.153471487T>A	NCBI36
NG_009783.1:g.14626A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.1534A>T MANE Select	NP_000148.2:p.Lys512Ter
ENST00000368373.8:c.1534A>T MANE Select	ENSP00000357357.3:p.Lys512Ter
NM_000157.3:c.1534A>T	NP_000148.2:p.Lys512Ter
NM_001005741.2:c.1534A>T	NP_001005741.1:p.Lys512Ter
NM_001005741.3:c.1534A>T	NP_001005741.1:p.Lys512Ter
NM_001005742.2:c.1534A>T	NP_001005742.1:p.Lys512Ter
NM_001005742.3:c.1534A>T	NP_001005742.1:p.Lys512Ter
NM_001171811.1:c.1273A>T	NP_001165282.1:p.Lys425Ter
NM_001171811.2:c.1273A>T	NP_001165282.1:p.Lys425Ter
NM_001171812.1:c.1387A>T	NP_001165283.1:p.Lys463Ter
NM_001171812.2:c.1387A>T	NP_001165283.1:p.Lys463Ter
ENST00000327247.9:c.1534A>T	ENSP00000314508.5:p.Lys512Ter
ENST00000368373.7:c.1534A>T	ENSP00000357357.3:p.Lys512Ter
ENST00000427500.7:c.1387A>T	ENSP00000402577.2:p.Lys463Ter
ENST00000428024.3:c.1273A>T	ENSP00000397986.2:p.Lys425Ter
ENST00000464536.1:n.191-251A>T
ENST00000478472.1:n.894A>T
ENST00000484489.5:n.693A>T
XM_006711270.1:c.1534A>T	XP_006711333.1:p.Lys512Ter
XM_011509407.1:c.1534A>T	XP_011507709.1:p.Lys512Ter