Canonical Allele Identifier: CA364288166

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43524920T>C , CM000668.2:g.43524920T>C GRCh38
NC_000006.11:g.43492658T>C , CM000668.1:g.43492658T>C GRCh37
NC_000006.10:g.43600636T>C NCBI36
NG_028283.3:g.20219T>C
NG_051658.1:g.56156A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265351.12:c.3223A>G (XPO5) MANE Select ENSP00000265351.7:p.Ser1075Gly
ENST00000607635.2:c.922+3872T>C (POLR1C) ENSP00000496683.1:n.922+3872T>C
ENST00000643341.1:c.922+3872T>C (POLR1C) ENSP00000496018.1:n.922+3872T>C
ENST00000643799.1:c.*17+3603T>C (POLR1C) ENSP00000494529.1:n.*17+3603T>C
ENST00000646433.1:c.922+3872T>C (POLR1C) ENSP00000494368.1:n.922+3872T>C
ENST00000646700.1:c.922+3872T>C (POLR1C) ENSP00000495521.1:n.922+3872T>C
ENST00000265351.11:c.3223A>G (XPO5) ENSP00000265351.7:p.Ser1075Gly
ENST00000304004.7:c.922+3872T>C (POLR1C) ENSP00000307212.3:n.922+3872T>C
ENST00000455285.2:c.567A>G (XPO5)
ENST00000455854.2:n.1706A>G (XPO5)
ENST00000486936.2:c.410A>G (XPO5)
ENST00000488195.6:n.620A>G (XPO5)
NM_020750.2:c.3223A>G (XPO5) NP_065801.1:p.Ser1075Gly
XM_005249491.1:c.922+3872T>C (POLR1C) XP_005249548.1:n.922+3872T>C
XM_011515000.1:c.922+3872T>C (POLR1C) XP_011513302.1:n.922+3872T>C
NM_001318876.1:c.922+3872T>C (POLR1C) NP_001305805.1:n.922+3872T>C
NM_001363658.1:c.922+3872T>C (POLR1C) NP_001350587.1:n.922+3872T>C
NR_144392.1:n.3572A>G (XPO5)
NM_020750.3:c.3223A>G (XPO5) MANE Select NP_065801.1:p.Ser1075Gly
NM_001363658.2:c.922+3872T>C (POLR1C) NP_001350587.1:n.922+3872T>C
NM_001318876.2:c.922+3872T>C (POLR1C) NP_001305805.1:n.922+3872T>C
NR_144392.2:n.3535A>G (XPO5)