Canonical Allele Identifier: CA15556031
Gene: MTMR9 HGNC NCBI

Linked Data

dbSNP Id: rs2164273
gnomAD v2: 8-11168499-A-G
gnomAD v3: 8-11310990-A-G
gnomAD v4: 8-11310990-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11310990A>G , CM000670.2:g.11310990A>G GRCh38
NC_000008.10:g.11168499A>G , CM000670.1:g.11168499A>G GRCh37
NC_000008.9:g.11205909A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221086.8:c.971+1302A>G MANE Select ENSP00000221086.3:n.971+1302A>G
ENST00000221086.7:c.971+1302A>G ENSP00000221086.3:n.971+1302A>G
ENST00000526292.1:c.716+1302A>G ENSP00000433239.1:n.716+1302A>G
ENST00000530200.1:c.*717+1302A>G ENSP00000436046.1:n.*717+1302A>G
NM_015458.3:c.971+1302A>G NP_056273.2:n.971+1302A>G
XM_011543830.1:c.650+1302A>G XP_011542132.1:n.650+1302A>G
XM_011543831.1:c.383+1302A>G XP_011542133.1:n.383+1302A>G
XM_011543830.3:c.650+1302A>G XP_011542132.1:n.650+1302A>G
XM_011543831.2:c.383+1302A>G XP_011542133.1:n.383+1302A>G
XM_017013753.2:c.971+1302A>G XP_016869242.1:n.971+1302A>G
NM_015458.4:c.971+1302A>G MANE Select NP_056273.2:n.971+1302A>G