Canonical Allele Identifier: CA16603437
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392923
ClinVar RCV Id: RCV000443344
dbSNP Id: rs1057524702
MyVariant Identifiers: chr1:g.155207271C>A (hg19) chr1:g.155237480C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155237480C>A , CM000663.2:g.155237480C>A GRCh38
NC_000001.10:g.155207271C>A , CM000663.1:g.155207271C>A GRCh37
NC_000001.9:g.153473895C>A NCBI36
NG_009783.1:g.12218G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.860G>T MANE Select ENSP00000357357.3:p.Cys287Phe
ENST00000327247.9:c.860G>T ENSP00000314508.5:p.Cys287Phe
ENST00000368373.7:c.860G>T ENSP00000357357.3:p.Cys287Phe
ENST00000427500.7:c.713G>T ENSP00000402577.2:p.Cys238Phe
ENST00000428024.3:c.599G>T ENSP00000397986.2:p.Cys200Phe
ENST00000484489.5:n.340-1192G>T
ENST00000491081.5:n.465G>T
ENST00000497670.5:n.483G>T
NM_000157.3:c.860G>T NP_000148.2:p.Cys287Phe
NM_001005741.2:c.860G>T NP_001005741.1:p.Cys287Phe
NM_001005742.2:c.860G>T NP_001005742.1:p.Cys287Phe
NM_001171811.1:c.599G>T NP_001165282.1:p.Cys200Phe
NM_001171812.1:c.713G>T NP_001165283.1:p.Cys238Phe
XM_006711270.1:c.860G>T XP_006711333.1:p.Cys287Phe
XM_011509407.1:c.860G>T XP_011507709.1:p.Cys287Phe
NM_000157.4:c.860G>T MANE Select NP_000148.2:p.Cys287Phe
NM_001005741.3:c.860G>T NP_001005741.1:p.Cys287Phe
NM_001005742.3:c.860G>T NP_001005742.1:p.Cys287Phe
NM_001171811.2:c.599G>T NP_001165282.1:p.Cys200Phe
NM_001171812.2:c.713G>T NP_001165283.1:p.Cys238Phe
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