Canonical Allele Identifier: CA9857817
Gene: MAFB HGNC NCBI

Linked Data

ClinVar Variation Id: 1940195
ClinVar RCV Id: RCV002639222
dbSNP Id: rs201783302

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.40688562G>A , CM000682.2:g.40688562G>A GRCh38
NC_000020.10:g.39317202G>A , CM000682.1:g.39317202G>A GRCh37
NC_000020.9:g.38750616G>A NCBI36
NG_023378.1:g.5675C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373313.3:c.289C>T MANE Select ENSP00000362410.2:p.Pro97Ser
ENST00000373313.2:c.289C>T ENSP00000362410.2:p.Pro97Ser
NM_005461.4:c.289C>T NP_005452.2:p.Pro97Ser
NM_005461.5:c.289C>T MANE Select NP_005452.2:p.Pro97Ser