Canonical Allele Identifier: CA2624006497

Gene: APEX1

Linked Data

• gnomAD v4: 14-20455169-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20455169G>T , CM000676.2:g.20455169G>T	GRCh38
NC_000014.8:g.20923328G>T , CM000676.1:g.20923328G>T	GRCh37
NC_000014.7:g.19993168G>T	NCBI36
NG_008718.1:g.5039G>T

Transcript Alleles

HGVS	Amino-acid change
NM_001244249.1:c.-289G>T	NP_001231178.1:n.-289G>T
NM_001641.3:c.-294G>T	NP_001632.2:n.-294G>T
NM_080648.2:c.-228G>T	NP_542379.1:n.-228G>T
NM_080649.2:c.-238G>T	NP_542380.1:n.-238G>T