Canonical Allele Identifier: CA3826429
Community Standard Title: NM_020750.3(XPO5):c.1425T>C (p.Asp475=)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43555852A>G , CM000668.2:g.43555852A>G GRCh38
NC_000006.11:g.43523589A>G , CM000668.1:g.43523589A>G GRCh37
NC_000006.10:g.43631567A>G NCBI36
NG_028283.3:g.51151A>G
NG_051658.1:g.25224T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020750.3:c.1425T>C (XPO5) MANE Select NP_065801.1:p.Asp475=
ENST00000265351.12:c.1425T>C (XPO5) MANE Select ENSP00000265351.7:p.Asp475=
NM_001318876.2:c.945+26581A>G (POLR1C) NP_001305805.1:n.945+26581A>G
NM_001363658.1:c.*42+4841A>G (POLR1C) NP_001350587.1:n.*42+4841A>G
NM_001363658.2:c.*42+4841A>G (POLR1C) NP_001350587.1:n.*42+4841A>G
NM_020750.2:c.1425T>C (XPO5) NP_065801.1:p.Asp475=
NR_144392.1:n.1636T>C (XPO5)
NR_144392.2:n.1599T>C (XPO5)
ENST00000265351.11:c.1425T>C (XPO5) ENSP00000265351.7:p.Asp475=
ENST00000424378.2:n.347T>C (XPO5)
ENST00000496341.6:c.410T>C (XPO5) ENSP00000424196.1:n.410T>C
ENST00000607635.2:c.*48+4841A>G (POLR1C) ENSP00000496683.1:n.*48+4841A>G
ENST00000643341.1:c.*42+4841A>G (POLR1C) ENSP00000496018.1:n.*42+4841A>G
ENST00000646433.1:c.923-5548A>G (POLR1C) ENSP00000494368.1:n.923-5548A>G
ENST00000646700.1:c.*1244A>G (POLR1C) ENSP00000495521.1:n.*1244A>G