Canonical Allele Identifier: CA450608768
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2859502
ClinVar RCV Id: RCV003701871
gnomAD v4: 6-49457754-T-C
COSMIC: COSM5808309
MyVariant Identifiers: chr6:g.49425467T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457754T>C , CM000668.2:g.49457754T>C GRCh38
NC_000006.11:g.49425467T>C , CM000668.1:g.49425467T>C GRCh37
NC_000006.10:g.49533426T>C NCBI36
NG_007100.1:g.10386A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.690A>G MANE Select ENSP00000274813.3:p.Thr230=
ENST00000274813.3:c.690A>G ENSP00000274813.3:p.Thr230=
NM_000255.3:c.690A>G NP_000246.2:p.Thr230=
XM_005249143.2:c.690A>G XP_005249200.1:p.Thr230=
XM_005249143.3:c.690A>G XP_005249200.1:p.Thr230=
NM_000255.4:c.690A>G MANE Select NP_000246.2:p.Thr230=
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