Canonical Allele Identifier: CA13244755
Gene: SLC16A9 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.59653595A>G
GRCh37 chr10:g.61413353A>G
gnomAD v2:
10:61413353 A / G
gnomAD v3:
10:59653595 A / G
gnomAD v4:
chr10-59653595-A-G
Joint Max Group AF 0.16367276 (NFE)
Genomes Max Group AF 0.15702593 (NFE)
Exomes Max Group AF 0.16405696 (NFE)
dbSNP:
12356193
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.59653595A>G , CM000672.2:g.59653595A>G GRCh38
NC_000010.10:g.61413353A>G , CM000672.1:g.61413353A>G GRCh37
NC_000010.9:g.61083359A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395348.8:c.1351+80T>C MANE Select ENSP00000378757.3:n.1351+80T>C
ENST00000395347.1:c.1351+80T>C ENSP00000378756.1:n.1351+80T>C
ENST00000395348.7:c.1351+80T>C ENSP00000378757.3:n.1351+80T>C
NM_194298.2:c.1351+80T>C NP_919274.1:n.1351+80T>C
XM_011539488.1:c.1351+80T>C XP_011537790.1:n.1351+80T>C
NM_001323977.1:c.1090+80T>C NP_001310906.1:n.1090+80T>C
NM_001323978.1:c.1090+80T>C NP_001310907.1:n.1090+80T>C
NM_001323979.1:c.1090+80T>C NP_001310908.1:n.1090+80T>C
NM_001323980.1:c.1090+80T>C NP_001310909.1:n.1090+80T>C
NM_001323981.1:c.1351+80T>C NP_001310910.1:n.1351+80T>C
XM_017015883.1:c.1431T>C XP_016871372.1:p.Asn477=
XM_017015884.2:c.1351+80T>C XP_016871373.1:n.1351+80T>C
XM_024447878.1:c.1351+80T>C XP_024303646.1:n.1351+80T>C
NM_001323978.2:c.1090+80T>C NP_001310907.1:n.1090+80T>C
NM_001323979.2:c.1090+80T>C NP_001310908.1:n.1090+80T>C
NM_001323980.2:c.1090+80T>C NP_001310909.1:n.1090+80T>C
NM_001323981.2:c.1351+80T>C NP_001310910.1:n.1351+80T>C
NM_194298.3:c.1351+80T>C MANE Select NP_919274.1:n.1351+80T>C
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