Canonical Allele Identifier: CA2648253251

Gene: GBA1

Linked Data

• gnomAD v4: 1-155239550-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239550T>C , CM000663.2:g.155239550T>C	GRCh38
NC_000001.10:g.155209341T>C , CM000663.1:g.155209341T>C	GRCh37
NC_000001.9:g.153475965T>C	NCBI36
NG_009783.1:g.10148A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.454+66A>G MANE Select	ENSP00000357357.3:n.454+66A>G
ENST00000327247.9:c.454+66A>G	ENSP00000314508.5:n.454+66A>G
ENST00000368373.7:c.454+66A>G	ENSP00000357357.3:n.454+66A>G
ENST00000427500.7:c.307+336A>G	ENSP00000402577.2:n.307+336A>G
ENST00000428024.3:c.193+66A>G	ENSP00000397986.2:n.193+66A>G
ENST00000473570.5:n.775+66A>G
ENST00000484489.5:n.339+423A>G
ENST00000493842.5:n.792+66A>G
ENST00000497670.5:n.77+336A>G
NM_000157.3:c.454+66A>G	NP_000148.2:n.454+66A>G
NM_001005741.2:c.454+66A>G	NP_001005741.1:n.454+66A>G
NM_001005742.2:c.454+66A>G	NP_001005742.1:n.454+66A>G
NM_001171811.1:c.193+66A>G	NP_001165282.1:n.193+66A>G
NM_001171812.1:c.307+336A>G	NP_001165283.1:n.307+336A>G
XM_006711270.1:c.454+66A>G	XP_006711333.1:n.454+66A>G
XM_011509407.1:c.454+66A>G	XP_011507709.1:n.454+66A>G
NM_000157.4:c.454+66A>G MANE Select	NP_000148.2:n.454+66A>G
NM_001005741.3:c.454+66A>G	NP_001005741.1:n.454+66A>G
NM_001005742.3:c.454+66A>G	NP_001005742.1:n.454+66A>G
NM_001171811.2:c.193+66A>G	NP_001165282.1:n.193+66A>G
NM_001171812.2:c.307+336A>G	NP_001165283.1:n.307+336A>G