Canonical Allele Identifier: CA16618293
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 423257
dbSNP Id: rs1064796328

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49453661del , CM000668.2:g.49453661del GRCh38
NC_000006.11:g.49421374del , CM000668.1:g.49421374del GRCh37
NC_000006.10:g.49529333del NCBI36
NG_007100.1:g.14479del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1007del MANE Select ENSP00000274813.3:p.Met336SerfsTer12
ENST00000274813.3:c.1007del ENSP00000274813.3:p.Met336SerfsTer12
NM_000255.3:c.1007del NP_000246.2:p.Met336SerfsTer12
XM_005249143.2:c.1007del XP_005249200.1:p.Met336SerfsTer12
XM_005249143.3:c.1007del XP_005249200.1:p.Met336SerfsTer12
NM_000255.4:c.1007del MANE Select NP_000246.2:p.Met336SerfsTer12