Canonical Allele Identifier: CA658823265
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 557861
ClinVar RCV Id: RCV000674054
dbSNP Id: rs1554160919
MyVariant Identifiers: chr6:g.49459107dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459107dup , CM000668.2:g.49459107dup GRCh38
NC_000006.11:g.49426820dup , CM000668.1:g.49426820dup GRCh37
NC_000006.10:g.49534779dup NCBI36
NG_007100.1:g.9033dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.360dup MANE Select ENSP00000274813.3:p.Lys121Ter
ENST00000274813.3:c.360dup ENSP00000274813.3:p.Lys121Ter
NM_000255.3:c.360dup NP_000246.2:p.Lys121Ter
XM_005249143.2:c.360dup XP_005249200.1:p.Lys121Ter
XM_005249143.3:c.360dup XP_005249200.1:p.Lys121Ter
NM_000255.4:c.360dup MANE Select NP_000246.2:p.Lys121Ter
Search 100 bp 5'
Search 100 bp 3'