Canonical Allele Identifier: CA4867594
Community Standard Title: NM_004306.4(ANXA13):c.15+1543G>C
Gene: ANXA13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.123735777C>G , CM000670.2:g.123735777C>G GRCh38
NC_000008.10:g.124748017C>G , CM000670.1:g.124748017C>G GRCh37
NC_000008.9:g.124817198C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004306.4:c.15+1543G>C MANE Select NP_004297.2:n.15+1543G>C
ENST00000419625.6:c.15+1543G>C MANE Select ENSP00000390809.1:n.15+1543G>C
NM_001003954.1:c.116G>C NP_001003954.1:p.Gly39Ala
NM_001003954.2:c.116G>C NP_001003954.1:p.Gly39Ala
NM_001003954.3:c.116G>C NP_001003954.1:p.Gly39Ala
NM_004306.2:c.15+1543G>C NP_004297.2:n.15+1543G>C
NM_004306.3:c.15+1543G>C NP_004297.2:n.15+1543G>C
ENST00000262219.10:c.116G>C ENSP00000262219.6:p.Gly39Ala
ENST00000419625.5:c.15+1543G>C ENSP00000390809.1:n.15+1543G>C
XR_928607.1:n.152+15816C>G
XR_928607.3:n.323+15816C>G