Canonical Allele Identifier: CA10603918

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238525T>A , CM000663.2:g.155238525T>A	GRCh38
NC_000001.10:g.155208316T>A , CM000663.1:g.155208316T>A	GRCh37
NC_000001.9:g.153474940T>A	NCBI36
NG_009783.1:g.11173A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.580A>T MANE Select	NP_000148.2:p.Lys194Ter
ENST00000368373.8:c.580A>T MANE Select	ENSP00000357357.3:p.Lys194Ter
NM_000157.3:c.580A>T	NP_000148.2:p.Lys194Ter
NM_001005741.2:c.580A>T	NP_001005741.1:p.Lys194Ter
NM_001005741.3:c.580A>T	NP_001005741.1:p.Lys194Ter
NM_001005742.2:c.580A>T	NP_001005742.1:p.Lys194Ter
NM_001005742.3:c.580A>T	NP_001005742.1:p.Lys194Ter
NM_001171811.1:c.319A>T	NP_001165282.1:p.Lys107Ter
NM_001171811.2:c.319A>T	NP_001165282.1:p.Lys107Ter
NM_001171812.1:c.433A>T	NP_001165283.1:p.Lys145Ter
NM_001171812.2:c.433A>T	NP_001165283.1:p.Lys145Ter
ENST00000327247.9:c.580A>T	ENSP00000314508.5:p.Lys194Ter
ENST00000368373.7:c.580A>T	ENSP00000357357.3:p.Lys194Ter
ENST00000427500.7:c.433A>T	ENSP00000402577.2:p.Lys145Ter
ENST00000428024.3:c.319A>T	ENSP00000397986.2:p.Lys107Ter
ENST00000460156.1:n.367A>T
ENST00000484489.5:n.339+1448A>T
ENST00000491081.5:n.185A>T
ENST00000493842.5:n.918A>T
ENST00000497670.5:n.203A>T
XM_006711270.1:c.580A>T	XP_006711333.1:p.Lys194Ter
XM_011509407.1:c.580A>T	XP_011507709.1:p.Lys194Ter