Canonical Allele Identifier: CA138290986

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43553150A>C , CM000668.2:g.43553150A>C GRCh38
NC_000006.11:g.43520887A>C , CM000668.1:g.43520887A>C GRCh37
NC_000006.10:g.43628865A>C NCBI36
NG_028283.3:g.48449A>C
NG_051658.1:g.27926T>G

Transcript Alleles

HGVS Amino-acid Change
NM_020750.3:c.1572+223T>G (XPO5) MANE Select NP_065801.1:n.1572+223T>G
ENST00000265351.12:c.1572+223T>G (XPO5) MANE Select ENSP00000265351.7:n.1572+223T>G
NM_001318876.2:c.945+23879A>C (POLR1C) NP_001305805.1:n.945+23879A>C
NM_001363658.1:c.*42+2139A>C (POLR1C) NP_001350587.1:n.*42+2139A>C
NM_001363658.2:c.*42+2139A>C (POLR1C) NP_001350587.1:n.*42+2139A>C
NM_020750.2:c.1572+223T>G (XPO5) NP_065801.1:n.1572+223T>G
NR_144392.1:n.1783+223T>G (XPO5)
NR_144392.2:n.1746+223T>G (XPO5)
ENST00000265351.11:c.1572+223T>G (XPO5) ENSP00000265351.7:n.1572+223T>G
ENST00000424378.2:n.494+223T>G (XPO5)
ENST00000496341.6:c.557+223T>G (XPO5) ENSP00000424196.1:n.557+223T>G
ENST00000607635.2:c.*48+2139A>C (POLR1C) ENSP00000496683.1:n.*48+2139A>C
ENST00000643341.1:c.*42+2139A>C (POLR1C) ENSP00000496018.1:n.*42+2139A>C
ENST00000646433.1:c.923-8250A>C (POLR1C) ENSP00000494368.1:n.923-8250A>C
ENST00000646700.1:c.*43-235A>C (POLR1C) ENSP00000495521.1:n.*43-235A>C