Canonical Allele Identifier: CA312777
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49457872G>T
GRCh37 chr6:g.49425585G>T
Revel Score:
ENST00000274813 (MANE Select) 0.958
gnomAD v2:
6:49425585 G / T
gnomAD v3:
6:49457872 G / T
gnomAD v4:
chr6-49457872-G-T
Joint Max Group AF 0.00004512 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00004267 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457872G>T , CM000668.2:g.49457872G>T GRCh38
NC_000006.11:g.49425585G>T , CM000668.1:g.49425585G>T GRCh37
NC_000006.10:g.49533544G>T NCBI36
NG_007100.1:g.10268C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.572C>A MANE Select ENSP00000274813.3:p.Ala191Glu
ENST00000274813.3:c.572C>A ENSP00000274813.3:p.Ala191Glu
NM_000255.3:c.572C>A NP_000246.2:p.Ala191Glu
XM_005249143.2:c.572C>A XP_005249200.1:p.Ala191Glu
XM_005249143.3:c.572C>A XP_005249200.1:p.Ala191Glu
NM_000255.4:c.572C>A MANE Select NP_000246.2:p.Ala191Glu
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