Canonical Allele Identifier: CA1139659593
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 978688
ClinVar RCV Id: RCV001257412
dbSNP Id: rs1767558268
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451691dup , CM000668.2:g.49451691dup GRCh38
NC_000006.11:g.49419404dup , CM000668.1:g.49419404dup GRCh37
NC_000006.10:g.49527363dup NCBI36
NG_007100.1:g.16449dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1107dup MANE Select ENSP00000274813.3:p.Thr370TyrfsTer22
ENST00000274813.3:c.1107dup ENSP00000274813.3:p.Thr370TyrfsTer22
NM_000255.3:c.1107dup NP_000246.2:p.Thr370TyrfsTer22
XM_005249143.2:c.1107dup XP_005249200.1:p.Thr370TyrfsTer22
XM_005249143.3:c.1107dup XP_005249200.1:p.Thr370TyrfsTer22
NM_000255.4:c.1107dup MANE Select NP_000246.2:p.Thr370TyrfsTer22
Search 100 bp 5'
Search 100 bp 3'