Canonical Allele Identifier: CA12852920
Gene: ANXA13 HGNC NCBI
COSMIC:
COSN1359033 (not active)
COSN17133388 (not active)
COSN17134202 (not active)
COSN17135148 (not active)
COSN17136905 (not active)
COSN17138821 (not active)
COSN17141430 (not active)
COSN17142839 (not active)
COSN17145451 (not active)
COSN17146403 (not active)
COSN17148167 (not active)
COSN17149989 (not active)
COSN17151926 (not active)
MyVariant.info:
GRCh38 chr8:g.123702482T>C
GRCh37 chr8:g.124714722T>C
gnomAD v2:
8:124714722 T / C
gnomAD v3:
8:123702482 T / C
gnomAD v4:
chr8-123702482-T-C
Joint Max Group AF 0.29827548 (NFE)
Genomes Max Group AF 0.29827548 (NFE)
dbSNP:
13258681
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.123702482T>C , CM000670.2:g.123702482T>C GRCh38
NC_000008.10:g.124714722T>C , CM000670.1:g.124714722T>C GRCh37
NC_000008.9:g.124783903T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419625.6:c.186+160A>G MANE Select ENSP00000390809.1:n.186+160A>G
ENST00000262219.10:c.309+160A>G ENSP00000262219.6:n.309+160A>G
ENST00000419625.5:c.186+160A>G ENSP00000390809.1:n.186+160A>G
ENST00000520519.1:c.99+160A>G ENSP00000429358.1:n.99+160A>G
NM_001003954.1:c.309+160A>G NP_001003954.1:n.309+160A>G
NM_004306.2:c.186+160A>G NP_004297.2:n.186+160A>G
NM_001003954.2:c.309+160A>G NP_001003954.1:n.309+160A>G
NM_004306.3:c.186+160A>G NP_004297.2:n.186+160A>G
NM_004306.4:c.186+160A>G MANE Select NP_004297.2:n.186+160A>G
NM_001003954.3:c.309+160A>G NP_001003954.1:n.309+160A>G
Search 100 bp 5'
Search 100 bp 3'