Canonical Allele Identifier: CA5367969

Gene: EXD3

Linked Data

• ClinVar Variation Id: 402840
• ClinVar RCV Id: RCV000455663
• dbSNP Id: rs35097575
• ExAC: 9:140243880 G / A
• gnomAD v2: 9-140243880-G-A
• gnomAD v3: 9-137349428-G-A
• gnomAD v4: 9-137349428-G-A
• MyVariant Identifiers: chr9:g.140243880G>A (hg19) ; chr9:g.137349428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137349428G>A , CM000671.2:g.137349428G>A	GRCh38
NC_000009.11:g.140243880G>A , CM000671.1:g.140243880G>A	GRCh37
NC_000009.10:g.139363701G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340951.9:c.1598C>T MANE Select	ENSP00000340474.4:p.Thr533Met
ENST00000340951.8:c.1598C>T	ENSP00000340474.4:p.Thr533Met
ENST00000478344.6:c.1947C>T
ENST00000484392.5:n.707C>T
ENST00000487745.5:n.926C>T
ENST00000491734.6:c.1215C>T	ENSP00000435830.1:n.1215C>T
NM_017820.4:c.1598C>T	NP_060290.3:p.Thr533Met
XM_011518805.1:c.2231C>T	XP_011517107.1:p.Thr744Met
XM_011518806.1:c.2192C>T	XP_011517108.1:p.Thr731Met
XM_011518807.1:c.2159C>T	XP_011517109.1:p.Thr720Met
XM_011518808.1:c.2114C>T	XP_011517110.1:p.Thr705Met
XM_011518809.1:c.2003C>T	XP_011517111.1:p.Thr668Met
XM_011518810.1:c.1973C>T	XP_011517112.1:p.Thr658Met
XM_011518811.1:c.1931C>T	XP_011517113.1:p.Thr644Met
XM_011518812.1:c.1931C>T	XP_011517114.1:p.Thr644Met
XM_011518813.1:c.1931C>T	XP_011517115.1:p.Thr644Met
XM_011518814.1:c.641C>T	XP_011517116.1:p.Thr214Met
XM_011518815.1:c.641C>T	XP_011517117.1:p.Thr214Met
XM_011518815.2:c.641C>T	XP_011517117.1:p.Thr214Met
XM_017014861.1:c.2120C>T	XP_016870350.1:p.Thr707Met
XM_017014862.1:c.1862C>T	XP_016870351.1:p.Thr621Met
XM_017014863.1:c.1820C>T	XP_016870352.1:p.Thr607Met
XM_017014864.1:c.1790C>T	XP_016870353.1:p.Thr597Met
XM_017014865.1:c.1790C>T	XP_016870354.1:p.Thr597Met
XM_024447588.1:c.1457C>T	XP_024303356.1:p.Thr486Met
XM_024447589.1:c.641C>T	XP_024303357.1:p.Thr214Met
NM_017820.5:c.1598C>T MANE Select	NP_060290.3:p.Thr533Met