Canonical Allele Identifier: CA10575884
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 222910
ClinVar RCV Id: RCV000237003
dbSNP Id: rs879253827
MyVariant Identifiers: chr6:g.49426802G>T (hg19) chr6:g.49459089G>T (hg38)
PubMed: PMID:25736335 PMID:27167370
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459089G>T , CM000668.2:g.49459089G>T GRCh38
NC_000006.11:g.49426802G>T , CM000668.1:g.49426802G>T GRCh37
NC_000006.10:g.49534761G>T NCBI36
NG_007100.1:g.9051C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.378C>A MANE Select ENSP00000274813.3:p.Asn126Lys
ENST00000274813.3:c.378C>A ENSP00000274813.3:p.Asn126Lys
NM_000255.3:c.378C>A NP_000246.2:p.Asn126Lys
XM_005249143.2:c.378C>A XP_005249200.1:p.Asn126Lys
XM_005249143.3:c.378C>A XP_005249200.1:p.Asn126Lys
NM_000255.4:c.378C>A MANE Select NP_000246.2:p.Asn126Lys
Search 100 bp 5'
Search 100 bp 3'