Canonical Allele Identifier: CA364404805
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 984272
ClinVar RCV Id: RCV001264282
dbSNP Id: rs1767739242
MyVariant Identifiers: chr6:g.49425756A>T (hg19) chr6:g.49458043A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458043A>T , CM000668.2:g.49458043A>T GRCh38
NC_000006.11:g.49425756A>T , CM000668.1:g.49425756A>T GRCh37
NC_000006.10:g.49533715A>T NCBI36
NG_007100.1:g.10097T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.401T>A MANE Select ENSP00000274813.3:p.Leu134Ter
ENST00000274813.3:c.401T>A ENSP00000274813.3:p.Leu134Ter
NM_000255.3:c.401T>A NP_000246.2:p.Leu134Ter
XM_005249143.2:c.401T>A XP_005249200.1:p.Leu134Ter
XM_005249143.3:c.401T>A XP_005249200.1:p.Leu134Ter
NM_000255.4:c.401T>A MANE Select NP_000246.2:p.Leu134Ter
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