Canonical Allele Identifier: CA1141498

Gene: GBA1

Linked Data

• dbSNP Id: rs748728000
• ExAC: 1:155204919 G / A
• gnomAD v2: 1-155204919-G-A
• gnomAD v3: 1-155235128-G-A
• gnomAD v4: 1-155235128-G-A
• MyVariant Identifiers: chr1:g.155204919G>A (hg19) ; chr1:g.155235128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235128G>A , CM000663.2:g.155235128G>A	GRCh38
NC_000001.10:g.155204919G>A , CM000663.1:g.155204919G>A	GRCh37
NC_000001.9:g.153471543G>A	NCBI36
NG_009783.1:g.14570C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1506-28C>T MANE Select	ENSP00000357357.3:n.1506-28C>T
ENST00000327247.9:c.1506-28C>T	ENSP00000314508.5:n.1506-28C>T
ENST00000368373.7:c.1506-28C>T	ENSP00000357357.3:n.1506-28C>T
ENST00000427500.7:c.1359-28C>T	ENSP00000402577.2:n.1359-28C>T
ENST00000428024.3:c.1245-28C>T	ENSP00000397986.2:n.1245-28C>T
ENST00000464536.1:n.191-307C>T
ENST00000478472.1:n.866-28C>T
ENST00000484489.5:n.665-28C>T
NM_000157.3:c.1506-28C>T	NP_000148.2:n.1506-28C>T
NM_001005741.2:c.1506-28C>T	NP_001005741.1:n.1506-28C>T
NM_001005742.2:c.1506-28C>T	NP_001005742.1:n.1506-28C>T
NM_001171811.1:c.1245-28C>T	NP_001165282.1:n.1245-28C>T
NM_001171812.1:c.1359-28C>T	NP_001165283.1:n.1359-28C>T
XM_006711270.1:c.1506-28C>T	XP_006711333.1:n.1506-28C>T
XM_011509407.1:c.1506-28C>T	XP_011507709.1:n.1506-28C>T
NM_000157.4:c.1506-28C>T MANE Select	NP_000148.2:n.1506-28C>T
NM_001005741.3:c.1506-28C>T	NP_001005741.1:n.1506-28C>T
NM_001005742.3:c.1506-28C>T	NP_001005742.1:n.1506-28C>T
NM_001171811.2:c.1245-28C>T	NP_001165282.1:n.1245-28C>T
NM_001171812.2:c.1359-28C>T	NP_001165283.1:n.1359-28C>T