Canonical Allele Identifier: CA347901
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 218993
ClinVar RCV Id: RCV000203385 RCV003556257
dbSNP Id: rs864309737
MyVariant Identifiers: chr6:g.49419414T>C (hg19) chr6:g.49451701T>C (hg38)
PubMed: PMID:20301409
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451701T>C , CM000668.2:g.49451701T>C GRCh38
NC_000006.11:g.49419414T>C , CM000668.1:g.49419414T>C GRCh37
NC_000006.10:g.49527373T>C NCBI36
NG_007100.1:g.16439A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1097A>G MANE Select ENSP00000274813.3:p.Asn366Ser
ENST00000274813.3:c.1097A>G ENSP00000274813.3:p.Asn366Ser
NM_000255.3:c.1097A>G NP_000246.2:p.Asn366Ser
XM_005249143.2:c.1097A>G XP_005249200.1:p.Asn366Ser
XM_005249143.3:c.1097A>G XP_005249200.1:p.Asn366Ser
NM_000255.4:c.1097A>G MANE Select NP_000246.2:p.Asn366Ser
Search 100 bp 5'
Search 100 bp 3'