Canonical Allele Identifier: CA485450241

Gene: APEX1

Linked Data

• dbSNP Id: rs758291121
• gnomAD v2: 14-20924976-C-G
• MyVariant Identifiers: chr14:g.20924976C>G (hg19) ; chr14:g.20456817C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456817C>G , CM000676.2:g.20456817C>G	GRCh38
NC_000014.8:g.20924976C>G , CM000676.1:g.20924976C>G	GRCh37
NC_000014.7:g.19994816C>G	NCBI36
NG_008718.1:g.6687C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.396C>G MANE Select	ENSP00000216714.3:p.Gly132=
ENST00000216714.7:c.396C>G	ENSP00000216714.3:p.Gly132=
ENST00000398030.8:c.396C>G	ENSP00000381111.4:p.Gly132=
ENST00000438886.1:c.245C>G
ENST00000553555.5:n.816C>G
ENST00000553681.5:c.396C>G	ENSP00000451327.1:p.Gly132=
ENST00000554813.5:n.462C>G
ENST00000555306.5:n.843C>G
ENST00000555414.5:c.396C>G	ENSP00000451979.1:p.Gly132=
ENST00000555839.5:c.396C>G	ENSP00000452460.1:p.Gly132=
ENST00000556054.5:c.396C>G	ENSP00000451170.1:p.Gly132=
ENST00000557054.1:c.28-306C>G	ENSP00000452212.2:n.28-306C>G
ENST00000557150.5:c.345C>G	ENSP00000452418.1:p.Gly115=
ENST00000557159.5:n.1012C>G
ENST00000557344.5:c.396C>G	ENSP00000452137.1:p.Gly132=
ENST00000557365.1:n.476C>G
ENST00000557592.5:c.345C>G	ENSP00000451060.1:p.Gly115=
NM_001244249.1:c.396C>G	NP_001231178.1:p.Gly132=
NM_001641.3:c.396C>G	NP_001632.2:p.Gly132=
NM_080648.2:c.396C>G	NP_542379.1:p.Gly132=
NM_080649.2:c.396C>G	NP_542380.1:p.Gly132=
XM_005267581.3:c.396C>G	XP_005267638.1:p.Gly132=
XM_005267582.3:c.345C>G	XP_005267639.1:p.Gly115=
NM_001641.4:c.396C>G MANE Select	NP_001632.2:p.Gly132=
NM_001244249.2:c.396C>G	NP_001231178.1:p.Gly132=
NM_080648.3:c.396C>G	NP_542379.1:p.Gly132=
NM_080649.3:c.396C>G	NP_542380.1:p.Gly132=