Canonical Allele Identifier: CA312764
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49451692C>T
GRCh37 chr6:g.49419405C>T
Revel Score:
ENST00000274813 (MANE Select) 0.989
gnomAD v2:
6:49419405 C / T
gnomAD v3:
6:49451692 C / T
gnomAD v4:
chr6-49451692-C-T
Joint Max Group AF 0.00005787 (EAS)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00004908 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451692C>T , CM000668.2:g.49451692C>T GRCh38
NC_000006.11:g.49419405C>T , CM000668.1:g.49419405C>T GRCh37
NC_000006.10:g.49527364C>T NCBI36
NG_007100.1:g.16448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1106G>A MANE Select ENSP00000274813.3:p.Arg369His
ENST00000274813.3:c.1106G>A ENSP00000274813.3:p.Arg369His
NM_000255.3:c.1106G>A NP_000246.2:p.Arg369His
XM_005249143.2:c.1106G>A XP_005249200.1:p.Arg369His
XM_005249143.3:c.1106G>A XP_005249200.1:p.Arg369His
NM_000255.4:c.1106G>A MANE Select NP_000246.2:p.Arg369His
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