Canonical Allele Identifier: CA400964877

Gene: FDXR

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74862864C>G , CM000679.2:g.74862864C>G	GRCh38
NC_000017.10:g.72858986C>G , CM000679.1:g.72858986C>G	GRCh37
NC_000017.9:g.70370581C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024417.5:c.1429G>C MANE Select	NP_077728.3:p.Glu477Gln
ENST00000293195.10:c.1429G>C MANE Select	ENSP00000293195.5:p.Glu477Gln
NM_001258012.3:c.1558G>C	NP_001244941.2:p.Glu520Gln
NM_001258012.4:c.1558G>C	NP_001244941.2:p.Glu520Gln
NM_001258013.3:c.1522G>C	NP_001244942.2:p.Glu508Gln
NM_001258013.4:c.1522G>C	NP_001244942.2:p.Glu508Gln
NM_001258014.3:c.1405G>C	NP_001244943.2:p.Glu469Gln
NM_001258014.4:c.1405G>C	NP_001244943.2:p.Glu469Gln
NM_001258015.2:c.1309G>C	NP_001244944.1:p.Glu437Gln
NM_001258015.3:c.1309G>C	NP_001244944.1:p.Glu437Gln
NM_001258016.3:c.1273G>C	NP_001244945.2:p.Glu425Gln
NM_004110.5:c.1447G>C	NP_004101.3:p.Glu483Gln
NM_004110.6:c.1447G>C	NP_004101.3:p.Glu483Gln
NM_024417.4:c.1429G>C	NP_077728.3:p.Glu477Gln
NR_047576.2:n.1616G>C
NR_047576.3:n.1579G>C
ENST00000293195.9:c.1429G>C	ENSP00000293195.5:p.Glu477Gln
ENST00000413947.6:c.1522G>C	ENSP00000408595.2:p.Glu508Gln
ENST00000420580.6:c.1309G>C	ENSP00000414172.2:p.Glu437Gln
ENST00000442102.6:c.1558G>C	ENSP00000416515.2:p.Glu520Gln
ENST00000544854.5:c.1273G>C	ENSP00000445432.1:p.Glu425Gln
ENST00000577509.5:c.*1388G>C	ENSP00000462083.1:n.*1388G>C
ENST00000578473.5:n.2117G>C
ENST00000579482.5:c.*1621G>C	ENSP00000461993.1:n.*1621G>C
ENST00000581530.5:c.1447G>C	ENSP00000462972.1:p.Glu483Gln
ENST00000582944.5:c.1405G>C	ENSP00000462183.1:p.Glu469Gln
ENST00000583881.5:c.*894G>C	ENSP00000464670.1:n.*894G>C
ENST00000583917.5:c.1345G>C	ENSP00000463940.1:p.Glu449Gln
XM_006721772.1:c.1432G>C	XP_006721835.1:p.Glu478Gln
XM_006721772.2:c.1432G>C	XP_006721835.1:p.Glu478Gln
XM_011524527.1:c.1450G>C	XP_011522829.1:p.Glu484Gln
XM_011524527.2:c.1450G>C	XP_011522829.1:p.Glu484Gln
XM_011524528.1:c.1441G>C	XP_011522830.1:p.Glu481Gln
XM_011524529.1:c.1438G>C	XP_011522831.1:p.Glu480Gln
XM_011524530.1:c.1312G>C	XP_011522832.1:p.Glu438Gln
XM_011524531.1:c.1294G>C	XP_011522833.1:p.Glu432Gln
XM_011524531.2:c.1294G>C	XP_011522833.1:p.Glu432Gln
XM_011524532.1:c.1291G>C	XP_011522834.1:p.Glu431Gln
XM_011524532.2:c.1291G>C	XP_011522834.1:p.Glu431Gln
XM_011524533.1:c.1276G>C	XP_011522835.1:p.Glu426Gln
XM_011524533.2:c.1276G>C	XP_011522835.1:p.Glu426Gln
XM_024450648.1:c.1147G>C	XP_024306416.1:p.Glu383Gln
XM_024450649.1:c.700G>C	XP_024306417.1:p.Glu234Gln
XM_024450650.1:c.700G>C	XP_024306418.1:p.Glu234Gln
XR_002957983.1:n.2285G>C