Canonical Allele Identifier: CA3846951
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 3178035
ClinVar RCV Id: RCV004472424
dbSNP Id: rs754742219
ExAC: 6:49419375 A / C
gnomAD v2: 6-49419375-A-C
gnomAD v4: 6-49451662-A-C
MyVariant Identifiers: chr6:g.49419375A>C (hg19) chr6:g.49451662A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451662A>C , CM000668.2:g.49451662A>C GRCh38
NC_000006.11:g.49419375A>C , CM000668.1:g.49419375A>C GRCh37
NC_000006.10:g.49527334A>C NCBI36
NG_007100.1:g.16478T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1136T>G MANE Select ENSP00000274813.3:p.Phe379Cys
ENST00000274813.3:c.1136T>G ENSP00000274813.3:p.Phe379Cys
NM_000255.3:c.1136T>G NP_000246.2:p.Phe379Cys
XM_005249143.2:c.1136T>G XP_005249200.1:p.Phe379Cys
XM_005249143.3:c.1136T>G XP_005249200.1:p.Phe379Cys
NM_000255.4:c.1136T>G MANE Select NP_000246.2:p.Phe379Cys
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