Canonical Allele Identifier: CA342723757

Gene: GBA1

Linked Data

• gnomAD v4: 1-155238537-C-T
• MyVariant Identifiers: chr1:g.155208328C>T (hg19) ; chr1:g.155238537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238537C>T , CM000663.2:g.155238537C>T	GRCh38
NC_000001.10:g.155208328C>T , CM000663.1:g.155208328C>T	GRCh37
NC_000001.9:g.153474952C>T	NCBI36
NG_009783.1:g.11161G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.568G>A MANE Select	ENSP00000357357.3:p.Glu190Lys
ENST00000327247.9:c.568G>A	ENSP00000314508.5:p.Glu190Lys
ENST00000368373.7:c.568G>A	ENSP00000357357.3:p.Glu190Lys
ENST00000427500.7:c.421G>A	ENSP00000402577.2:p.Glu141Lys
ENST00000428024.3:c.307G>A	ENSP00000397986.2:p.Glu103Lys
ENST00000460156.1:n.355G>A
ENST00000484489.5:n.339+1436G>A
ENST00000491081.5:n.173G>A
ENST00000493842.5:n.906G>A
ENST00000497670.5:n.191G>A
NM_000157.3:c.568G>A	NP_000148.2:p.Glu190Lys
NM_001005741.2:c.568G>A	NP_001005741.1:p.Glu190Lys
NM_001005742.2:c.568G>A	NP_001005742.1:p.Glu190Lys
NM_001171811.1:c.307G>A	NP_001165282.1:p.Glu103Lys
NM_001171812.1:c.421G>A	NP_001165283.1:p.Glu141Lys
XM_006711270.1:c.568G>A	XP_006711333.1:p.Glu190Lys
XM_011509407.1:c.568G>A	XP_011507709.1:p.Glu190Lys
NM_000157.4:c.568G>A MANE Select	NP_000148.2:p.Glu190Lys
NM_001005741.3:c.568G>A	NP_001005741.1:p.Glu190Lys
NM_001005742.3:c.568G>A	NP_001005742.1:p.Glu190Lys
NM_001171811.2:c.307G>A	NP_001165282.1:p.Glu103Lys
NM_001171812.2:c.421G>A	NP_001165283.1:p.Glu141Lys