Canonical Allele Identifier: CA16618295
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 419283
dbSNP Id: rs1064793768

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459157del , CM000668.2:g.49459157del GRCh38
NC_000006.11:g.49426870del , CM000668.1:g.49426870del GRCh37
NC_000006.10:g.49534829del NCBI36
NG_007100.1:g.8985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.312del MANE Select ENSP00000274813.3:p.Trp105GlyfsTer?
ENST00000274813.3:c.312del ENSP00000274813.3:p.Trp105GlyfsTer?
NM_000255.3:c.312del NP_000246.2:p.Trp105GlyfsTer?
XM_005249143.2:c.312del XP_005249200.1:p.Trp105GlyfsTer?
XM_005249143.3:c.312del XP_005249200.1:p.Trp105GlyfsTer?
NM_000255.4:c.312del MANE Select NP_000246.2:p.Trp105GlyfsTer?