Canonical Allele Identifier: CA364288077

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43524883T>C , CM000668.2:g.43524883T>C GRCh38
NC_000006.11:g.43492621T>C , CM000668.1:g.43492621T>C GRCh37
NC_000006.10:g.43600599T>C NCBI36
NG_028283.3:g.20182T>C
NG_051658.1:g.56193A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265351.12:c.3260A>G (XPO5) MANE Select ENSP00000265351.7:p.Asp1087Gly
ENST00000607635.2:c.922+3835T>C (POLR1C) ENSP00000496683.1:n.922+3835T>C
ENST00000643341.1:c.922+3835T>C (POLR1C) ENSP00000496018.1:n.922+3835T>C
ENST00000643799.1:c.*17+3566T>C (POLR1C) ENSP00000494529.1:n.*17+3566T>C
ENST00000646433.1:c.922+3835T>C (POLR1C) ENSP00000494368.1:n.922+3835T>C
ENST00000646700.1:c.922+3835T>C (POLR1C) ENSP00000495521.1:n.922+3835T>C
ENST00000265351.11:c.3260A>G (XPO5) ENSP00000265351.7:p.Asp1087Gly
ENST00000304004.7:c.922+3835T>C (POLR1C) ENSP00000307212.3:n.922+3835T>C
ENST00000455285.2:c.604A>G (XPO5)
ENST00000455854.2:n.1743A>G (XPO5)
ENST00000486936.2:c.447A>G (XPO5)
ENST00000488195.6:n.657A>G (XPO5)
NM_020750.2:c.3260A>G (XPO5) NP_065801.1:p.Asp1087Gly
XM_005249491.1:c.922+3835T>C (POLR1C) XP_005249548.1:n.922+3835T>C
XM_011515000.1:c.922+3835T>C (POLR1C) XP_011513302.1:n.922+3835T>C
NM_001318876.1:c.922+3835T>C (POLR1C) NP_001305805.1:n.922+3835T>C
NM_001363658.1:c.922+3835T>C (POLR1C) NP_001350587.1:n.922+3835T>C
NR_144392.1:n.3609A>G (XPO5)
NM_020750.3:c.3260A>G (XPO5) MANE Select NP_065801.1:p.Asp1087Gly
NM_001363658.2:c.922+3835T>C (POLR1C) NP_001350587.1:n.922+3835T>C
NM_001318876.2:c.922+3835T>C (POLR1C) NP_001305805.1:n.922+3835T>C
NR_144392.2:n.3572A>G (XPO5)