Canonical Allele Identifier: CA115263
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49451668G>T
GRCh37 chr6:g.49419381G>T
Revel Score:
ENST00000274813 (MANE Select) 0.960
gnomAD v3:
6:49451668 G / T
gnomAD v4:
chr6-49451668-G-T
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV000001956
RCV002512663
ClinVar Variation:
1879
dbSNP:
121918250
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451668G>T , CM000668.2:g.49451668G>T GRCh38
NC_000006.11:g.49419381G>T , CM000668.1:g.49419381G>T GRCh37
NC_000006.10:g.49527340G>T NCBI36
NG_007100.1:g.16472C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1130C>A MANE Select ENSP00000274813.3:p.Ala377Glu
ENST00000274813.3:c.1130C>A ENSP00000274813.3:p.Ala377Glu
NM_000255.3:c.1130C>A NP_000246.2:p.Ala377Glu
XM_005249143.2:c.1130C>A XP_005249200.1:p.Ala377Glu
XM_005249143.3:c.1130C>A XP_005249200.1:p.Ala377Glu
NM_000255.4:c.1130C>A MANE Select NP_000246.2:p.Ala377Glu
Search 100 bp 5'
Search 100 bp 3'