Canonical Allele Identifier: CA913110644
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49425478dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457766dup , CM000668.2:g.49457766dup GRCh38
NC_000006.11:g.49425479dup , CM000668.1:g.49425479dup GRCh37
NC_000006.10:g.49533438dup NCBI36
NG_007100.1:g.10375dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.679dup MANE Select ENSP00000274813.3:p.Val227GlyfsTer18
ENST00000274813.3:c.679dup ENSP00000274813.3:p.Val227GlyfsTer18
NM_000255.3:c.679dup NP_000246.2:p.Val227GlyfsTer18
XM_005249143.2:c.679dup XP_005249200.1:p.Val227GlyfsTer18
XM_005249143.3:c.679dup XP_005249200.1:p.Val227GlyfsTer18
NM_000255.4:c.679dup MANE Select NP_000246.2:p.Val227GlyfsTer18