Canonical Allele Identifier: CA2499218328
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1075803
ClinVar RCV Id: RCV001389500
dbSNP Id: rs2127416851
gnomAD v4: 6-49447766-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447768dup , CM000668.2:g.49447768dup GRCh38
NC_000006.11:g.49415481dup , CM000668.1:g.49415481dup GRCh37
NC_000006.10:g.49523440dup NCBI36
NG_007100.1:g.20373dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1463dup MANE Select ENSP00000274813.3:p.Val489SerfsTer3
ENST00000274813.3:c.1463dup ENSP00000274813.3:p.Val489SerfsTer3
NM_000255.3:c.1463dup NP_000246.2:p.Val489SerfsTer3
XM_005249143.2:c.1463dup XP_005249200.1:p.Val489SerfsTer3
XM_005249143.3:c.1463dup XP_005249200.1:p.Val489SerfsTer3
NM_000255.4:c.1463dup MANE Select NP_000246.2:p.Val489SerfsTer3
Search 100 bp 5'
Search 100 bp 3'