Canonical Allele Identifier: CA4867596
Community Standard Title: NM_004306.4(ANXA13):c.15+1529C>A
Gene: ANXA13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.123735791G>T , CM000670.2:g.123735791G>T GRCh38
NC_000008.10:g.124748031G>T , CM000670.1:g.124748031G>T GRCh37
NC_000008.9:g.124817212G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004306.4:c.15+1529C>A MANE Select NP_004297.2:n.15+1529C>A
ENST00000419625.6:c.15+1529C>A MANE Select ENSP00000390809.1:n.15+1529C>A
NM_001003954.1:c.102C>A NP_001003954.1:p.His34Gln
NM_001003954.2:c.102C>A NP_001003954.1:p.His34Gln
NM_001003954.3:c.102C>A NP_001003954.1:p.His34Gln
NM_004306.2:c.15+1529C>A NP_004297.2:n.15+1529C>A
NM_004306.3:c.15+1529C>A NP_004297.2:n.15+1529C>A
ENST00000262219.10:c.102C>A ENSP00000262219.6:p.His34Gln
ENST00000419625.5:c.15+1529C>A ENSP00000390809.1:n.15+1529C>A
XR_928607.1:n.152+15830G>T
XR_928607.3:n.323+15830G>T