Canonical Allele Identifier: CA1118741967
Gene: ANXA13 HGNC NCBI

Linked Data

dbSNP Id: rs1813461465
gnomAD v3: 8-123702449-C-T
gnomAD v4: 8-123702449-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.123702449C>T , CM000670.2:g.123702449C>T GRCh38
NC_000008.10:g.124714689C>T , CM000670.1:g.124714689C>T GRCh37
NC_000008.9:g.124783870C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419625.6:c.186+193G>A MANE Select ENSP00000390809.1:n.186+193G>A
ENST00000262219.10:c.309+193G>A ENSP00000262219.6:n.309+193G>A
ENST00000419625.5:c.186+193G>A ENSP00000390809.1:n.186+193G>A
ENST00000520519.1:c.99+193G>A ENSP00000429358.1:n.99+193G>A
NM_001003954.1:c.309+193G>A NP_001003954.1:n.309+193G>A
NM_004306.2:c.186+193G>A NP_004297.2:n.186+193G>A
NM_001003954.2:c.309+193G>A NP_001003954.1:n.309+193G>A
NM_004306.3:c.186+193G>A NP_004297.2:n.186+193G>A
NM_004306.4:c.186+193G>A MANE Select NP_004297.2:n.186+193G>A
NM_001003954.3:c.309+193G>A NP_001003954.1:n.309+193G>A
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