Canonical Allele Identifier: CA138295154
Community Standard Title: NM_020750.3(XPO5):c.1312+71A>G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43558430T>C , CM000668.2:g.43558430T>C GRCh38
NC_000006.11:g.43526167T>C , CM000668.1:g.43526167T>C GRCh37
NC_000006.10:g.43634145T>C NCBI36
NG_028283.3:g.53729T>C
NG_051658.1:g.22646A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020750.3:c.1312+71A>G (XPO5) MANE Select NP_065801.1:n.1312+71A>G
ENST00000265351.12:c.1312+71A>G (XPO5) MANE Select ENSP00000265351.7:n.1312+71A>G
NM_001318876.2:c.945+29159T>C (POLR1C) NP_001305805.1:n.945+29159T>C
NM_001363658.1:c.*43-2970T>C (POLR1C) NP_001350587.1:n.*43-2970T>C
NM_001363658.2:c.*43-2970T>C (POLR1C) NP_001350587.1:n.*43-2970T>C
NM_020750.2:c.1312+71A>G (XPO5) NP_065801.1:n.1312+71A>G
NR_144392.1:n.1523+71A>G (XPO5)
NR_144392.2:n.1486+71A>G (XPO5)
ENST00000265351.11:c.1312+71A>G (XPO5) ENSP00000265351.7:n.1312+71A>G
ENST00000424378.2:n.234+71A>G (XPO5)
ENST00000496341.6:c.297+1748A>G (XPO5) ENSP00000424196.1:n.297+1748A>G
ENST00000607635.2:c.*49-2970T>C (POLR1C) ENSP00000496683.1:n.*49-2970T>C
ENST00000643341.1:c.*43-2970T>C (POLR1C) ENSP00000496018.1:n.*43-2970T>C
ENST00000646433.1:c.923-2970T>C (POLR1C) ENSP00000494368.1:n.923-2970T>C