Canonical Allele Identifier: CA4867253
Gene: ANXA13 HGNC NCBI
COSMIC:
COSM6351317 (not active)
MyVariant.info:
GRCh38 chr8:g.123684627C>T
GRCh37 chr8:g.124696867C>T
Revel Score:
ENST00000262219 0.018
ENST00000419625 (MANE Select) 0.018
gnomAD v2:
8:124696867 C / T
gnomAD v3:
8:123684627 C / T
gnomAD v4:
chr8-123684627-C-T
Joint Max Group AF 0.87989771 (AFR)
Genomes Max Group AF 0.87339217 (AFR)
Exomes Max Group AF 0.88276088 (AFR)
dbSNP:
2294015
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.123684627C>T , CM000670.2:g.123684627C>T GRCh38
NC_000008.10:g.124696867C>T , CM000670.1:g.124696867C>T GRCh37
NC_000008.9:g.124766048C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419625.6:c.814G>A MANE Select ENSP00000390809.1:p.Val272Ile
ENST00000262219.10:c.937G>A ENSP00000262219.6:p.Val313Ile
ENST00000419625.5:c.814G>A ENSP00000390809.1:p.Val272Ile
NM_001003954.1:c.937G>A NP_001003954.1:p.Val313Ile
NM_004306.2:c.814G>A NP_004297.2:p.Val272Ile
NM_001003954.2:c.937G>A NP_001003954.1:p.Val313Ile
NM_004306.3:c.814G>A NP_004297.2:p.Val272Ile
NM_004306.4:c.814G>A MANE Select NP_004297.2:p.Val272Ile
NM_001003954.3:c.937G>A NP_001003954.1:p.Val313Ile
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