Canonical Allele Identifier: CA450606476
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451591G>T , CM000668.2:g.49451591G>T GRCh38
NC_000006.11:g.49419304G>T , CM000668.1:g.49419304G>T GRCh37
NC_000006.10:g.49527263G>T NCBI36
NG_007100.1:g.16549C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1207C>A MANE Select ENSP00000274813.3:p.Arg403=
ENST00000274813.3:c.1207C>A ENSP00000274813.3:p.Arg403=
NM_000255.3:c.1207C>A NP_000246.2:p.Arg403=
XM_005249143.2:c.1207C>A XP_005249200.1:p.Arg403=
XM_005249143.3:c.1207C>A XP_005249200.1:p.Arg403=
NM_000255.4:c.1207C>A MANE Select NP_000246.2:p.Arg403=