Canonical Allele Identifier: CA2679047396
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459286dup , CM000668.2:g.49459286dup GRCh38
NC_000006.11:g.49426999dup , CM000668.1:g.49426999dup GRCh37
NC_000006.10:g.49534958dup NCBI36
NG_007100.1:g.8854dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.181dup MANE Select ENSP00000274813.3:p.Trp61LeufsTer23
ENST00000274813.3:c.181dup ENSP00000274813.3:p.Trp61LeufsTer23
NM_000255.3:c.181dup NP_000246.2:p.Trp61LeufsTer23
XM_005249143.2:c.181dup XP_005249200.1:p.Trp61LeufsTer23
XM_005249143.3:c.181dup XP_005249200.1:p.Trp61LeufsTer23
NM_000255.4:c.181dup MANE Select NP_000246.2:p.Trp61LeufsTer23