Canonical Allele Identifier: CA3847162
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 3178712
ClinVar RCV Id: RCV004475084
dbSNP Id: rs757381606
ExAC: 6:49426973 T / C
gnomAD v2: 6-49426973-T-C
gnomAD v3: 6-49459260-T-C
gnomAD v4: 6-49459260-T-C
MyVariant Identifiers: chr6:g.49426973T>C (hg19) chr6:g.49459260T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459260T>C , CM000668.2:g.49459260T>C GRCh38
NC_000006.11:g.49426973T>C , CM000668.1:g.49426973T>C GRCh37
NC_000006.10:g.49534932T>C NCBI36
NG_007100.1:g.8880A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.207A>G MANE Select ENSP00000274813.3:p.Ile69Met
ENST00000274813.3:c.207A>G ENSP00000274813.3:p.Ile69Met
NM_000255.3:c.207A>G NP_000246.2:p.Ile69Met
XM_005249143.2:c.207A>G XP_005249200.1:p.Ile69Met
XM_005249143.3:c.207A>G XP_005249200.1:p.Ile69Met
NM_000255.4:c.207A>G MANE Select NP_000246.2:p.Ile69Met
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Search 100 bp 3'