Canonical Allele Identifier: CA12752261
Gene: MTMR9 HGNC NCBI
COSMIC:
COSN16302296 (not active)
MyVariant.info:
GRCh38 chr8:g.11319901G>A
GRCh37 chr8:g.11177410G>A
gnomAD v2:
8:11177410 G / A
gnomAD v3:
8:11319901 G / A
gnomAD v4:
chr8-11319901-G-A
Joint Max Group AF 0.67120028 (EAS)
Genomes Max Group AF 0.67980018 (EAS)
Exomes Max Group AF 0.66800579 (EAS)
dbSNP:
2293855
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11319901G>A , CM000670.2:g.11319901G>A GRCh38
NC_000008.10:g.11177410G>A , CM000670.1:g.11177410G>A GRCh37
NC_000008.9:g.11214820G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221086.8:c.1486+63G>A MANE Select ENSP00000221086.3:n.1486+63G>A
ENST00000221086.7:c.1486+63G>A ENSP00000221086.3:n.1486+63G>A
ENST00000526292.1:c.1231+63G>A ENSP00000433239.1:n.1231+63G>A
ENST00000530200.1:c.*1232+63G>A ENSP00000436046.1:n.*1232+63G>A
NM_015458.3:c.1486+63G>A NP_056273.2:n.1486+63G>A
XM_011543830.1:c.1165+63G>A XP_011542132.1:n.1165+63G>A
XM_011543831.1:c.898+63G>A XP_011542133.1:n.898+63G>A
XM_011543830.3:c.1165+63G>A XP_011542132.1:n.1165+63G>A
XM_011543831.2:c.898+63G>A XP_011542133.1:n.898+63G>A
NM_015458.4:c.1486+63G>A MANE Select NP_056273.2:n.1486+63G>A
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