Canonical Allele Identifier: CA30896586

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155240701A>G , CM000663.2:g.155240701A>G	GRCh38
NC_000001.10:g.155210492A>G , CM000663.1:g.155210492A>G	GRCh37
NC_000001.9:g.153477116A>G	NCBI36
NG_009783.1:g.8997T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.44T>C MANE Select	NP_000148.2:p.Leu15Ser
ENST00000368373.8:c.44T>C MANE Select	ENSP00000357357.3:p.Leu15Ser
NM_000157.3:c.44T>C	NP_000148.2:p.Leu15Ser
NM_001005741.2:c.44T>C	NP_001005741.1:p.Leu15Ser
NM_001005741.3:c.44T>C	NP_001005741.1:p.Leu15Ser
NM_001005742.2:c.44T>C	NP_001005742.1:p.Leu15Ser
NM_001005742.3:c.44T>C	NP_001005742.1:p.Leu15Ser
NM_001171811.1:c.-146-624T>C	NP_001165282.1:n.-146-624T>C
NM_001171811.2:c.-146-624T>C	NP_001165282.1:n.-146-624T>C
NM_001171812.1:c.44T>C	NP_001165283.1:p.Leu15Ser
NM_001171812.2:c.44T>C	NP_001165283.1:p.Leu15Ser
ENST00000327247.9:c.44T>C	ENSP00000314508.5:p.Leu15Ser
ENST00000368373.7:c.44T>C	ENSP00000357357.3:p.Leu15Ser
ENST00000427500.7:c.44T>C	ENSP00000402577.2:p.Leu15Ser
ENST00000428024.3:c.-146-624T>C	ENSP00000397986.2:n.-146-624T>C
ENST00000467918.5:n.349T>C
ENST00000470104.1:n.175T>C
ENST00000473570.5:n.365T>C
ENST00000484489.5:n.163T>C
ENST00000493842.5:n.382T>C
XM_006711270.1:c.44T>C	XP_006711333.1:p.Leu15Ser
XM_011509407.1:c.44T>C	XP_011507709.1:p.Leu15Ser