Canonical Allele Identifier: CA389132246

Gene: APEX1

Linked Data

• dbSNP Id: rs775543515
• gnomAD v4: 14-20457133-G-T
• MyVariant Identifiers: chr14:g.20925292G>T (hg19) ; chr14:g.20457133G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457133G>T , CM000676.2:g.20457133G>T	GRCh38
NC_000014.8:g.20925292G>T , CM000676.1:g.20925292G>T	GRCh37
NC_000014.7:g.19995132G>T	NCBI36
NG_008718.1:g.7003G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.582G>T MANE Select	ENSP00000216714.3:p.Lys194Asn
ENST00000216714.7:c.582G>T	ENSP00000216714.3:p.Lys194Asn
ENST00000398030.8:c.582G>T	ENSP00000381111.4:p.Lys194Asn
ENST00000438886.1:c.362G>T
ENST00000553555.5:n.1002G>T
ENST00000553681.5:c.582G>T	ENSP00000451327.1:p.Lys194Asn
ENST00000554813.5:n.648G>T
ENST00000555414.5:c.582G>T	ENSP00000451979.1:p.Lys194Asn
ENST00000555839.5:c.495G>T	ENSP00000452460.1:p.Lys165Asn
ENST00000557054.1:c.38G>T	ENSP00000452212.2:p.Ser13Ile
ENST00000557159.5:n.1198G>T
ENST00000557365.1:n.662G>T
NM_001244249.1:c.582G>T	NP_001231178.1:p.Lys194Asn
NM_001641.3:c.582G>T	NP_001632.2:p.Lys194Asn
NM_080648.2:c.582G>T	NP_542379.1:p.Lys194Asn
NM_080649.2:c.582G>T	NP_542380.1:p.Lys194Asn
XM_005267581.3:c.582G>T	XP_005267638.1:p.Lys194Asn
XM_005267582.3:c.531G>T	XP_005267639.1:p.Lys177Asn
NM_001641.4:c.582G>T MANE Select	NP_001632.2:p.Lys194Asn
NM_001244249.2:c.582G>T	NP_001231178.1:p.Lys194Asn
NM_080648.3:c.582G>T	NP_542379.1:p.Lys194Asn
NM_080649.3:c.582G>T	NP_542380.1:p.Lys194Asn