Canonical Allele Identifier: CA2624006492

Gene: APEX1

Linked Data

• gnomAD v4: 14-20455161-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20455161C>A , CM000676.2:g.20455161C>A	GRCh38
NC_000014.8:g.20923320C>A , CM000676.1:g.20923320C>A	GRCh37
NC_000014.7:g.19993160C>A	NCBI36
NG_008718.1:g.5031C>A

Transcript Alleles

HGVS	Amino-acid change
NM_001244249.1:c.-297C>A	NP_001231178.1:n.-297C>A
NM_001641.3:c.-302C>A	NP_001632.2:n.-302C>A
NM_080648.2:c.-236C>A	NP_542379.1:n.-236C>A
NM_080649.2:c.-246C>A	NP_542380.1:n.-246C>A