Canonical Allele Identifier: CA2842197517

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238443dup , CM000663.2:g.155238443dup	GRCh38
NC_000001.10:g.155208234dup , CM000663.1:g.155208234dup	GRCh37
NC_000001.9:g.153474858dup	NCBI36
NG_009783.1:g.11256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.588+75dup MANE Select	ENSP00000357357.3:n.588+75dup
ENST00000327247.9:c.588+75dup	ENSP00000314508.5:n.588+75dup
ENST00000368373.7:c.588+75dup	ENSP00000357357.3:n.588+75dup
ENST00000427500.7:c.441+75dup	ENSP00000402577.2:n.441+75dup
ENST00000428024.3:c.327+75dup	ENSP00000397986.2:n.327+75dup
ENST00000460156.1:n.375+75dup
ENST00000484489.5:n.339+1531dup
ENST00000491081.5:n.193+75dup
ENST00000493842.5:n.926+75dup
ENST00000497670.5:n.211+75dup
NM_000157.3:c.588+75dup	NP_000148.2:n.588+75dup
NM_001005741.2:c.588+75dup	NP_001005741.1:n.588+75dup
NM_001005742.2:c.588+75dup	NP_001005742.1:n.588+75dup
NM_001171811.1:c.327+75dup	NP_001165282.1:n.327+75dup
NM_001171812.1:c.441+75dup	NP_001165283.1:n.441+75dup
XM_006711270.1:c.588+75dup	XP_006711333.1:n.588+75dup
XM_011509407.1:c.588+75dup	XP_011507709.1:n.588+75dup
NM_000157.4:c.588+75dup MANE Select	NP_000148.2:n.588+75dup
NM_001005741.3:c.588+75dup	NP_001005741.1:n.588+75dup
NM_001005742.3:c.588+75dup	NP_001005742.1:n.588+75dup
NM_001171811.2:c.327+75dup	NP_001165282.1:n.327+75dup
NM_001171812.2:c.441+75dup	NP_001165283.1:n.441+75dup