Canonical Allele Identifier: CA342721445

Gene: GBA1

Linked Data

• gnomAD v4: 1-155238161-T-C
• MyVariant Identifiers: chr1:g.155207952T>C (hg19) ; chr1:g.155238161T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238161T>C , CM000663.2:g.155238161T>C	GRCh38
NC_000001.10:g.155207952T>C , CM000663.1:g.155207952T>C	GRCh37
NC_000001.9:g.153474576T>C	NCBI36
NG_009783.1:g.11537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.734A>G MANE Select	ENSP00000357357.3:p.His245Arg
ENST00000327247.9:c.734A>G	ENSP00000314508.5:p.His245Arg
ENST00000368373.7:c.734A>G	ENSP00000357357.3:p.His245Arg
ENST00000427500.7:c.587A>G	ENSP00000402577.2:p.His196Arg
ENST00000428024.3:c.473A>G	ENSP00000397986.2:p.His158Arg
ENST00000460156.1:n.521A>G
ENST00000484489.5:n.339+1812A>G
ENST00000491081.5:n.339A>G
ENST00000497670.5:n.357A>G
NM_000157.3:c.734A>G	NP_000148.2:p.His245Arg
NM_001005741.2:c.734A>G	NP_001005741.1:p.His245Arg
NM_001005742.2:c.734A>G	NP_001005742.1:p.His245Arg
NM_001171811.1:c.473A>G	NP_001165282.1:p.His158Arg
NM_001171812.1:c.587A>G	NP_001165283.1:p.His196Arg
XM_006711270.1:c.734A>G	XP_006711333.1:p.His245Arg
XM_011509407.1:c.734A>G	XP_011507709.1:p.His245Arg
NM_000157.4:c.734A>G MANE Select	NP_000148.2:p.His245Arg
NM_001005741.3:c.734A>G	NP_001005741.1:p.His245Arg
NM_001005742.3:c.734A>G	NP_001005742.1:p.His245Arg
NM_001171811.2:c.473A>G	NP_001165282.1:p.His158Arg
NM_001171812.2:c.587A>G	NP_001165283.1:p.His196Arg