Canonical Allele Identifier: CA138329196

Linked Data

dbSNP Id: rs11544382

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43524604A>G , CM000668.2:g.43524604A>G GRCh38
NC_000006.11:g.43492342A>G , CM000668.1:g.43492342A>G GRCh37
NC_000006.10:g.43600320A>G NCBI36
NG_028283.3:g.19903A>G
NG_051658.1:g.56472T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265351.12:c.3344T>C (XPO5) MANE Select ENSP00000265351.7:p.Met1115Thr
ENST00000607635.2:c.922+3556A>G (POLR1C) ENSP00000496683.1:n.922+3556A>G
ENST00000643341.1:c.922+3556A>G (POLR1C) ENSP00000496018.1:n.922+3556A>G
ENST00000643799.1:c.*17+3287A>G (POLR1C) ENSP00000494529.1:n.*17+3287A>G
ENST00000646433.1:c.922+3556A>G (POLR1C) ENSP00000494368.1:n.922+3556A>G
ENST00000646700.1:c.922+3556A>G (POLR1C) ENSP00000495521.1:n.922+3556A>G
ENST00000265351.11:c.3344T>C (XPO5) ENSP00000265351.7:p.Met1115Thr
ENST00000304004.7:c.922+3556A>G (POLR1C) ENSP00000307212.3:n.922+3556A>G
ENST00000455285.2:c.688T>C (XPO5)
ENST00000455854.2:n.1827T>C (XPO5)
ENST00000486936.2:c.531T>C (XPO5)
ENST00000488195.6:n.741T>C (XPO5)
NM_020750.2:c.3344T>C (XPO5) NP_065801.1:p.Met1115Thr
XM_005249491.1:c.922+3556A>G (POLR1C) XP_005249548.1:n.922+3556A>G
XM_011515000.1:c.922+3556A>G (POLR1C) XP_011513302.1:n.922+3556A>G
NM_001318876.1:c.922+3556A>G (POLR1C) NP_001305805.1:n.922+3556A>G
NM_001363658.1:c.922+3556A>G (POLR1C) NP_001350587.1:n.922+3556A>G
NR_144392.1:n.3693T>C (XPO5)
NM_020750.3:c.3344T>C (XPO5) MANE Select NP_065801.1:p.Met1115Thr
NM_001363658.2:c.922+3556A>G (POLR1C) NP_001350587.1:n.922+3556A>G
NM_001318876.2:c.922+3556A>G (POLR1C) NP_001305805.1:n.922+3556A>G
NR_144392.2:n.3656T>C (XPO5)