Canonical Allele Identifier: CA342723748

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155208327T>C (hg19) ; chr1:g.155238536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238536T>C , CM000663.2:g.155238536T>C	GRCh38
NC_000001.10:g.155208327T>C , CM000663.1:g.155208327T>C	GRCh37
NC_000001.9:g.153474951T>C	NCBI36
NG_009783.1:g.11162A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.569A>G MANE Select	ENSP00000357357.3:p.Glu190Gly
ENST00000327247.9:c.569A>G	ENSP00000314508.5:p.Glu190Gly
ENST00000368373.7:c.569A>G	ENSP00000357357.3:p.Glu190Gly
ENST00000427500.7:c.422A>G	ENSP00000402577.2:p.Glu141Gly
ENST00000428024.3:c.308A>G	ENSP00000397986.2:p.Glu103Gly
ENST00000460156.1:n.356A>G
ENST00000484489.5:n.339+1437A>G
ENST00000491081.5:n.174A>G
ENST00000493842.5:n.907A>G
ENST00000497670.5:n.192A>G
NM_000157.3:c.569A>G	NP_000148.2:p.Glu190Gly
NM_001005741.2:c.569A>G	NP_001005741.1:p.Glu190Gly
NM_001005742.2:c.569A>G	NP_001005742.1:p.Glu190Gly
NM_001171811.1:c.308A>G	NP_001165282.1:p.Glu103Gly
NM_001171812.1:c.422A>G	NP_001165283.1:p.Glu141Gly
XM_006711270.1:c.569A>G	XP_006711333.1:p.Glu190Gly
XM_011509407.1:c.569A>G	XP_011507709.1:p.Glu190Gly
NM_000157.4:c.569A>G MANE Select	NP_000148.2:p.Glu190Gly
NM_001005741.3:c.569A>G	NP_001005741.1:p.Glu190Gly
NM_001005742.3:c.569A>G	NP_001005742.1:p.Glu190Gly
NM_001171811.2:c.308A>G	NP_001165282.1:p.Glu103Gly
NM_001171812.2:c.422A>G	NP_001165283.1:p.Glu141Gly