Canonical Allele Identifier: CA10575866
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49451521C>T
GRCh37 chr6:g.49419234C>T
Revel Score:
ENST00000274813 (MANE Select) 0.970
ClinVar RCV:
RCV000236497
ClinVar Variation:
222932
dbSNP:
533755473
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451521C>T , CM000668.2:g.49451521C>T GRCh38
NC_000006.11:g.49419234C>T , CM000668.1:g.49419234C>T GRCh37
NC_000006.10:g.49527193C>T NCBI36
NG_007100.1:g.16619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1277G>A MANE Select ENSP00000274813.3:p.Gly426Glu
ENST00000274813.3:c.1277G>A ENSP00000274813.3:p.Gly426Glu
NM_000255.3:c.1277G>A NP_000246.2:p.Gly426Glu
XM_005249143.2:c.1277G>A XP_005249200.1:p.Gly426Glu
XM_005249143.3:c.1277G>A XP_005249200.1:p.Gly426Glu
NM_000255.4:c.1277G>A MANE Select NP_000246.2:p.Gly426Glu
Search 100 bp 5'
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