Canonical Allele Identifier: CA421026527

Gene: GBA1

Linked Data

• gnomAD v4: 1-155238634-G-T
• MyVariant Identifiers: chr1:g.155208425G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238634G>T , CM000663.2:g.155238634G>T	GRCh38
NC_000001.10:g.155208425G>T , CM000663.1:g.155208425G>T	GRCh37
NC_000001.9:g.153475049G>T	NCBI36
NG_009783.1:g.11064C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.471C>A MANE Select	ENSP00000357357.3:p.Ile157=
ENST00000327247.9:c.471C>A	ENSP00000314508.5:p.Ile157=
ENST00000368373.7:c.471C>A	ENSP00000357357.3:p.Ile157=
ENST00000427500.7:c.324C>A	ENSP00000402577.2:p.Ile108=
ENST00000428024.3:c.210C>A	ENSP00000397986.2:p.Ile70=
ENST00000460156.1:n.258C>A
ENST00000473570.5:n.792C>A
ENST00000484489.5:n.339+1339C>A
ENST00000491081.5:n.76C>A
ENST00000493842.5:n.809C>A
ENST00000497670.5:n.94C>A
NM_000157.3:c.471C>A	NP_000148.2:p.Ile157=
NM_001005741.2:c.471C>A	NP_001005741.1:p.Ile157=
NM_001005742.2:c.471C>A	NP_001005742.1:p.Ile157=
NM_001171811.1:c.210C>A	NP_001165282.1:p.Ile70=
NM_001171812.1:c.324C>A	NP_001165283.1:p.Ile108=
XM_006711270.1:c.471C>A	XP_006711333.1:p.Ile157=
XM_011509407.1:c.471C>A	XP_011507709.1:p.Ile157=
NM_000157.4:c.471C>A MANE Select	NP_000148.2:p.Ile157=
NM_001005741.3:c.471C>A	NP_001005741.1:p.Ile157=
NM_001005742.3:c.471C>A	NP_001005742.1:p.Ile157=
NM_001171811.2:c.210C>A	NP_001165282.1:p.Ile70=
NM_001171812.2:c.324C>A	NP_001165283.1:p.Ile108=