Canonical Allele Identifier: CA3846614
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs766839518
ExAC: 6:49399438 A / G
gnomAD v2: 6-49399438-A-G
gnomAD v3: 6-49431725-A-G
gnomAD v4: 6-49431725-A-G
MyVariant Identifiers: chr6:g.49399438A>G (hg19) chr6:g.49431725A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431725A>G , CM000668.2:g.49431725A>G GRCh38
NC_000006.11:g.49399438A>G , CM000668.1:g.49399438A>G GRCh37
NC_000006.10:g.49507397A>G NCBI36
NG_007100.1:g.36415T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.*3T>C MANE Select ENSP00000274813.3:n.*3T>C
ENST00000274813.3:c.*3T>C ENSP00000274813.3:n.*3T>C
NM_000255.3:c.*3T>C NP_000246.2:n.*3T>C
XM_005249143.2:c.*3T>C XP_005249200.1:n.*3T>C
XM_005249143.3:c.*3T>C XP_005249200.1:n.*3T>C
NM_000255.4:c.*3T>C MANE Select NP_000246.2:n.*3T>C
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