Canonical Allele Identifier: CA10755467
Gene: TSNAX-DISC1 HGNC NCBI
COSMIC:
COSN6447059 (not active)
MyVariant.info:
GRCh38 chr1:g.231626594G>C
GRCh37 chr1:g.231762340G>C
gnomAD v2:
1:231762340 G / C
gnomAD v3:
1:231626594 G / C
gnomAD v4:
chr1-231626594-G-C
Joint Max Group AF 0.54323201 (NFE)
Genomes Max Group AF 0.54323201 (NFE)
dbSNP:
3738398
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231626594G>C , CM000663.2:g.231626594G>C GRCh38
NC_000001.10:g.231762340G>C , CM000663.1:g.231762340G>C GRCh37
NC_000001.9:g.229828963G>C NCBI36
NG_011681.1:g.4780G>C
NG_011681.2:g.4780G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644515.1:c.*213+9688G>C ENSP00000496433.1:n.*213+9688G>C
ENST00000646525.1:c.*213+9688G>C ENSP00000494923.1:n.*213+9688G>C
ENST00000647072.1:c.*320+8535G>C ENSP00000493799.1:n.*320+8535G>C
ENST00000602567.1:c.*197+9688G>C ENSP00000473456.1:n.*197+9688G>C
ENST00000602634.5:c.*213+9688G>C ENSP00000473307.1:n.*213+9688G>C
ENST00000602885.5:c.*126+65339G>C ENSP00000473476.1:n.*126+65339G>C
ENST00000602956.5:c.495+65339G>C ENSP00000473532.1:n.495+65339G>C
ENST00000602962.5:c.*197+9688G>C ENSP00000473367.1:n.*197+9688G>C
NR_028393.1:n.788+9688G>C
NR_028394.1:n.916+9688G>C
NR_028395.1:n.916+9688G>C
NR_028396.1:n.788+9688G>C
NR_028397.1:n.653+65339G>C
NR_028398.1:n.407+65339G>C
NR_028399.1:n.1023+8535G>C
NR_028400.1:n.895+8535G>C
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