Canonical Allele Identifier: CA342721276

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155207940G>C (hg19) ; chr1:g.155238149G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238149G>C , CM000663.2:g.155238149G>C	GRCh38
NC_000001.10:g.155207940G>C , CM000663.1:g.155207940G>C	GRCh37
NC_000001.9:g.153474564G>C	NCBI36
NG_009783.1:g.11549C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.746C>G MANE Select	ENSP00000357357.3:p.Ala249Gly
ENST00000327247.9:c.746C>G	ENSP00000314508.5:p.Ala249Gly
ENST00000368373.7:c.746C>G	ENSP00000357357.3:p.Ala249Gly
ENST00000427500.7:c.599C>G	ENSP00000402577.2:p.Ala200Gly
ENST00000428024.3:c.485C>G	ENSP00000397986.2:p.Ala162Gly
ENST00000460156.1:n.533C>G
ENST00000484489.5:n.339+1824C>G
ENST00000491081.5:n.351C>G
ENST00000497670.5:n.369C>G
NM_000157.3:c.746C>G	NP_000148.2:p.Ala249Gly
NM_001005741.2:c.746C>G	NP_001005741.1:p.Ala249Gly
NM_001005742.2:c.746C>G	NP_001005742.1:p.Ala249Gly
NM_001171811.1:c.485C>G	NP_001165282.1:p.Ala162Gly
NM_001171812.1:c.599C>G	NP_001165283.1:p.Ala200Gly
XM_006711270.1:c.746C>G	XP_006711333.1:p.Ala249Gly
XM_011509407.1:c.746C>G	XP_011507709.1:p.Ala249Gly
NM_000157.4:c.746C>G MANE Select	NP_000148.2:p.Ala249Gly
NM_001005741.3:c.746C>G	NP_001005741.1:p.Ala249Gly
NM_001005742.3:c.746C>G	NP_001005742.1:p.Ala249Gly
NM_001171811.2:c.485C>G	NP_001165282.1:p.Ala162Gly
NM_001171812.2:c.599C>G	NP_001165283.1:p.Ala200Gly