Canonical Allele Identifier: CA239498

Gene: GBA1

Linked Data

• ClinVar Variation Id: 193828
• ClinVar RCV Id: RCV000174029
• dbSNP Id: rs794727021
• MyVariant Identifiers: chr1:g.155204976T>A (hg19) ; chr1:g.155235185T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235185T>A , CM000663.2:g.155235185T>A	GRCh38
NC_000001.10:g.155204976T>A , CM000663.1:g.155204976T>A	GRCh37
NC_000001.9:g.153471600T>A	NCBI36
NG_009783.1:g.14513A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1505+10A>T MANE Select	ENSP00000357357.3:n.1505+10A>T
ENST00000327247.9:c.1505+10A>T	ENSP00000314508.5:n.1505+10A>T
ENST00000368373.7:c.1505+10A>T	ENSP00000357357.3:n.1505+10A>T
ENST00000427500.7:c.1358+10A>T	ENSP00000402577.2:n.1358+10A>T
ENST00000428024.3:c.1244+10A>T	ENSP00000397986.2:n.1244+10A>T
ENST00000464536.1:n.191-364A>T
ENST00000478472.1:n.865+10A>T
ENST00000484489.5:n.664+10A>T
NM_000157.3:c.1505+10A>T	NP_000148.2:n.1505+10A>T
NM_001005741.2:c.1505+10A>T	NP_001005741.1:n.1505+10A>T
NM_001005742.2:c.1505+10A>T	NP_001005742.1:n.1505+10A>T
NM_001171811.1:c.1244+10A>T	NP_001165282.1:n.1244+10A>T
NM_001171812.1:c.1358+10A>T	NP_001165283.1:n.1358+10A>T
XM_006711270.1:c.1505+10A>T	XP_006711333.1:n.1505+10A>T
XM_011509407.1:c.1505+10A>T	XP_011507709.1:n.1505+10A>T
NM_000157.4:c.1505+10A>T MANE Select	NP_000148.2:n.1505+10A>T
NM_001005741.3:c.1505+10A>T	NP_001005741.1:n.1505+10A>T
NM_001005742.3:c.1505+10A>T	NP_001005742.1:n.1505+10A>T
NM_001171811.2:c.1244+10A>T	NP_001165282.1:n.1244+10A>T
NM_001171812.2:c.1358+10A>T	NP_001165283.1:n.1358+10A>T