Canonical Allele Identifier: CA10575883
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 222911
ClinVar RCV Id: RCV000235708
dbSNP Id: rs879253828
gnomAD v4: 6-49458047-C-T
MyVariant Identifiers: chr6:g.49425760C>T (hg19) chr6:g.49458047C>T (hg38)
PubMed: PMID:25736335 PMID:27167370
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458047C>T , CM000668.2:g.49458047C>T GRCh38
NC_000006.11:g.49425760C>T , CM000668.1:g.49425760C>T GRCh37
NC_000006.10:g.49533719C>T NCBI36
NG_007100.1:g.10093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.397G>A MANE Select ENSP00000274813.3:p.Gly133Arg
ENST00000274813.3:c.397G>A ENSP00000274813.3:p.Gly133Arg
NM_000255.3:c.397G>A NP_000246.2:p.Gly133Arg
XM_005249143.2:c.397G>A XP_005249200.1:p.Gly133Arg
XM_005249143.3:c.397G>A XP_005249200.1:p.Gly133Arg
NM_000255.4:c.397G>A MANE Select NP_000246.2:p.Gly133Arg
Search 100 bp 5'
Search 100 bp 3'