Canonical Allele Identifier: CA347886
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 218985
ClinVar RCV Id: RCV000203360
dbSNP Id: rs190834116
MyVariant Identifiers: chr6:g.49426896G>C (hg19) chr6:g.49459183G>C (hg38)
PubMed: PMID:20301409
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459183G>C , CM000668.2:g.49459183G>C GRCh38
NC_000006.11:g.49426896G>C , CM000668.1:g.49426896G>C GRCh37
NC_000006.10:g.49534855G>C NCBI36
NG_007100.1:g.8957C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.284C>G MANE Select ENSP00000274813.3:p.Pro95Arg
ENST00000274813.3:c.284C>G ENSP00000274813.3:p.Pro95Arg
NM_000255.3:c.284C>G NP_000246.2:p.Pro95Arg
XM_005249143.2:c.284C>G XP_005249200.1:p.Pro95Arg
XM_005249143.3:c.284C>G XP_005249200.1:p.Pro95Arg
NM_000255.4:c.284C>G MANE Select NP_000246.2:p.Pro95Arg
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