Canonical Allele Identifier: CA364404354
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2418941
ClinVar RCV Id: RCV003112185
gnomAD v4: 6-49457831-C-T
MyVariant Identifiers: chr6:g.49425544C>T (hg19) chr6:g.49457831C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457831C>T , CM000668.2:g.49457831C>T GRCh38
NC_000006.11:g.49425544C>T , CM000668.1:g.49425544C>T GRCh37
NC_000006.10:g.49533503C>T NCBI36
NG_007100.1:g.10309G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.613G>A MANE Select ENSP00000274813.3:p.Glu205Lys
ENST00000274813.3:c.613G>A ENSP00000274813.3:p.Glu205Lys
NM_000255.3:c.613G>A NP_000246.2:p.Glu205Lys
XM_005249143.2:c.613G>A XP_005249200.1:p.Glu205Lys
XM_005249143.3:c.613G>A XP_005249200.1:p.Glu205Lys
NM_000255.4:c.613G>A MANE Select NP_000246.2:p.Glu205Lys
Search 100 bp 5'
Search 100 bp 3'