Canonical Allele Identifier: CA2573914041

Gene: GBA1

Linked Data

• gnomAD v4: 1-155234931-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155234931G>A , CM000663.2:g.155234931G>A	GRCh38
NC_000001.10:g.155204722G>A , CM000663.1:g.155204722G>A	GRCh37
NC_000001.9:g.153471346G>A	NCBI36
NG_009783.1:g.14767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.*64C>T MANE Select	ENSP00000357357.3:n.*64C>T
ENST00000327247.9:c.*64C>T	ENSP00000314508.5:n.*64C>T
ENST00000368373.7:c.*64C>T	ENSP00000357357.3:n.*64C>T
ENST00000427500.7:c.*64C>T	ENSP00000402577.2:n.*64C>T
ENST00000428024.3:c.*64C>T	ENSP00000397986.2:n.*64C>T
ENST00000464536.1:n.191-110C>T
NM_000157.3:c.*64C>T	NP_000148.2:n.*64C>T
NM_001005741.2:c.*64C>T	NP_001005741.1:n.*64C>T
NM_001005742.2:c.*64C>T	NP_001005742.1:n.*64C>T
NM_001171811.1:c.*64C>T	NP_001165282.1:n.*64C>T
NM_001171812.1:c.*64C>T	NP_001165283.1:n.*64C>T
XM_006711270.1:c.*64C>T	XP_006711333.1:n.*64C>T
XM_011509407.1:c.*64C>T	XP_011507709.1:n.*64C>T
NM_000157.4:c.*64C>T MANE Select	NP_000148.2:n.*64C>T
NM_001005741.3:c.*64C>T	NP_001005741.1:n.*64C>T
NM_001005742.3:c.*64C>T	NP_001005742.1:n.*64C>T
NM_001171811.2:c.*64C>T	NP_001165282.1:n.*64C>T
NM_001171812.2:c.*64C>T	NP_001165283.1:n.*64C>T