Canonical Allele Identifier: CA39317215
Gene: TSNAX HGNC NCBI
TSNAX-DISC1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.231563728G>C
GRCh37 chr1:g.231699474G>C
gnomAD v2:
1:231699474 G / C
gnomAD v3:
1:231563728 G / C
gnomAD v4:
chr1-231563728-G-C
Joint Max Group AF 0.11883606 (NFE)
Genomes Max Group AF 0.11882853 (NFE)
Exomes Max Group AF 0.06083871 (NFE)
dbSNP:
1655285
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231563728G>C , CM000663.2:g.231563728G>C GRCh38
NC_000001.10:g.231699474G>C , CM000663.1:g.231699474G>C GRCh37
NC_000001.9:g.229766097G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366639.9:c.496-800G>C (TSNAX) MANE Select ENSP00000355599.3:n.496-800G>C
ENST00000644515.1:c.367+21117G>C (TSNAX-DISC1) ENSP00000496433.1:n.367+21117G>C
ENST00000646525.1:c.367+21117G>C (TSNAX-DISC1) ENSP00000494923.1:n.367+21117G>C
ENST00000647072.1:c.367+21117G>C (TSNAX-DISC1) ENSP00000493799.1:n.367+21117G>C
ENST00000366639.8:c.496-800G>C (TSNAX) ENSP00000355599.3:n.496-800G>C
ENST00000475168.1:n.3632+99G>C (TSNAX)
ENST00000602567.1:c.495+2473G>C (TSNAX-DISC1) ENSP00000473456.1:n.495+2473G>C
ENST00000602634.5:c.367+21117G>C (TSNAX-DISC1) ENSP00000473307.1:n.367+21117G>C
ENST00000602885.5:c.*126+2473G>C (TSNAX-DISC1) ENSP00000473476.1:n.*126+2473G>C
ENST00000602956.5:c.495+2473G>C (TSNAX-DISC1) ENSP00000473532.1:n.495+2473G>C
ENST00000602962.5:c.495+2473G>C (TSNAX-DISC1) ENSP00000473367.1:n.495+2473G>C
NM_005999.2:c.496-800G>C (TSNAX) NP_005990.1:n.496-800G>C
NR_028393.1:n.525+21117G>C (TSNAX-DISC1)
NR_028394.1:n.653+2473G>C (TSNAX-DISC1)
NR_028395.1:n.653+2473G>C (TSNAX-DISC1)
NR_028396.1:n.525+21117G>C (TSNAX-DISC1)
NR_028397.1:n.653+2473G>C (TSNAX-DISC1)
NR_028398.1:n.407+2473G>C (TSNAX-DISC1)
NR_028399.1:n.653+2473G>C (TSNAX-DISC1)
NR_028400.1:n.525+21117G>C (TSNAX-DISC1)
NM_005999.3:c.496-800G>C (TSNAX) MANE Select NP_005990.1:n.496-800G>C
Search 100 bp 5'
Search 100 bp 3'