Canonical Allele Identifier: CA2481203582

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239749G= , CM000663.2:g.155239749G=	GRCh38
NC_000001.10:g.155209540G= , CM000663.1:g.155209540G=	GRCh37
NC_000001.9:g.153476164G=	NCBI36
NG_009783.1:g.9949C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.321C= MANE Select	ENSP00000357357.3:p.Thr107=
ENST00000327247.9:c.321C=	ENSP00000314508.5:p.Thr107=
ENST00000368373.7:c.321C=	ENSP00000357357.3:p.Thr107=
ENST00000427500.7:c.307+137C=	ENSP00000402577.2:n.307+137C=
ENST00000428024.3:c.60C=	ENSP00000397986.2:p.Thr20=
ENST00000467918.5:n.511C=
ENST00000473570.5:n.642C=
ENST00000484489.5:n.339+224C=
ENST00000493842.5:n.659C=
ENST00000497670.5:n.77+137C=
NM_000157.3:c.321C=	NP_000148.2:p.Thr107=
NM_001005741.2:c.321C=	NP_001005741.1:p.Thr107=
NM_001005742.2:c.321C=	NP_001005742.1:p.Thr107=
NM_001171811.1:c.60C=	NP_001165282.1:p.Thr20=
NM_001171812.1:c.307+137C=	NP_001165283.1:n.307+137C=
XM_006711270.1:c.321C=	XP_006711333.1:p.Thr107=
XM_011509407.1:c.321C=	XP_011507709.1:p.Thr107=
NM_000157.4:c.321C= MANE Select	NP_000148.2:p.Thr107=
NM_001005741.3:c.321C=	NP_001005741.1:p.Thr107=
NM_001005742.3:c.321C=	NP_001005742.1:p.Thr107=
NM_001171811.2:c.60C=	NP_001165282.1:p.Thr20=
NM_001171812.2:c.307+137C=	NP_001165283.1:n.307+137C=