Canonical Allele Identifier: CA2122038421

Gene: APEX1

Linked Data

• dbSNP Id: rs1594411507

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20455160C>G , CM000676.2:g.20455160C>G	GRCh38
NC_000014.8:g.20923319C>G , CM000676.1:g.20923319C>G	GRCh37
NC_000014.7:g.19993159C>G	NCBI36
NG_008718.1:g.5030C>G

Transcript Alleles

HGVS	Amino-acid change
NM_001244249.1:c.-298C>G	NP_001231178.1:n.-298C>G
NM_001641.3:c.-303C>G	NP_001632.2:n.-303C>G
NM_080648.2:c.-237C>G	NP_542379.1:n.-237C>G
NM_080649.2:c.-247C>G	NP_542380.1:n.-247C>G