Canonical Allele Identifier: CA3847145
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49459186C>A
GRCh37 chr6:g.49426899C>A
Revel Score:
ENST00000274813 (MANE Select) 0.986
gnomAD v2:
6:49426899 C / A
gnomAD v3:
6:49459186 C / A
gnomAD v4:
chr6-49459186-C-A
Joint Max Group AF 0.00001744 (AFR)
Genomes Max Group AF 0.00000798 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459186C>A , CM000668.2:g.49459186C>A GRCh38
NC_000006.11:g.49426899C>A , CM000668.1:g.49426899C>A GRCh37
NC_000006.10:g.49534858C>A NCBI36
NG_007100.1:g.8954G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.281G>T MANE Select ENSP00000274813.3:p.Gly94Val
ENST00000274813.3:c.281G>T ENSP00000274813.3:p.Gly94Val
NM_000255.3:c.281G>T NP_000246.2:p.Gly94Val
XM_005249143.2:c.281G>T XP_005249200.1:p.Gly94Val
XM_005249143.3:c.281G>T XP_005249200.1:p.Gly94Val
NM_000255.4:c.281G>T MANE Select NP_000246.2:p.Gly94Val
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