Canonical Allele Identifier: CA389130778

Gene: APEX1

Linked Data

• gnomAD v4: 14-20456762-T-A
• MyVariant Identifiers: chr14:g.20924921T>A (hg19) ; chr14:g.20456762T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456762T>A , CM000676.2:g.20456762T>A	GRCh38
NC_000014.8:g.20924921T>A , CM000676.1:g.20924921T>A	GRCh37
NC_000014.7:g.19994761T>A	NCBI36
NG_008718.1:g.6632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.341T>A MANE Select	ENSP00000216714.3:p.Leu114His
ENST00000216714.7:c.341T>A	ENSP00000216714.3:p.Leu114His
ENST00000398030.8:c.341T>A	ENSP00000381111.4:p.Leu114His
ENST00000438886.1:c.190T>A
ENST00000553555.5:n.761T>A
ENST00000553681.5:c.341T>A	ENSP00000451327.1:p.Leu114His
ENST00000554813.5:n.407T>A
ENST00000555306.5:n.788T>A
ENST00000555414.5:c.341T>A	ENSP00000451979.1:p.Leu114His
ENST00000555839.5:c.341T>A	ENSP00000452460.1:p.Leu114His
ENST00000556054.5:c.341T>A	ENSP00000451170.1:p.Leu114His
ENST00000557054.1:c.28-361T>A	ENSP00000452212.2:n.28-361T>A
ENST00000557150.5:c.290T>A	ENSP00000452418.1:p.Leu97His
ENST00000557159.5:n.957T>A
ENST00000557344.5:c.341T>A	ENSP00000452137.1:p.Leu114His
ENST00000557365.1:n.421T>A
ENST00000557592.5:c.290T>A	ENSP00000451060.1:p.Leu97His
NM_001244249.1:c.341T>A	NP_001231178.1:p.Leu114His
NM_001641.3:c.341T>A	NP_001632.2:p.Leu114His
NM_080648.2:c.341T>A	NP_542379.1:p.Leu114His
NM_080649.2:c.341T>A	NP_542380.1:p.Leu114His
XM_005267581.3:c.341T>A	XP_005267638.1:p.Leu114His
XM_005267582.3:c.290T>A	XP_005267639.1:p.Leu97His
NM_001641.4:c.341T>A MANE Select	NP_001632.2:p.Leu114His
NM_001244249.2:c.341T>A	NP_001231178.1:p.Leu114His
NM_080648.3:c.341T>A	NP_542379.1:p.Leu114His
NM_080649.3:c.341T>A	NP_542380.1:p.Leu114His