Canonical Allele Identifier: CA3825834

Linked Data

dbSNP Id: rs747834363
gnomAD v2: 6-43492619-C-T
gnomAD v3: 6-43524881-C-T
gnomAD v4: 6-43524881-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43524881C>T , CM000668.2:g.43524881C>T GRCh38
NC_000006.11:g.43492619C>T , CM000668.1:g.43492619C>T GRCh37
NC_000006.10:g.43600597C>T NCBI36
NG_028283.3:g.20180C>T
NG_051658.1:g.56195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265351.12:c.3262G>A (XPO5) MANE Select ENSP00000265351.7:p.Gly1088Arg
ENST00000607635.2:c.922+3833C>T (POLR1C) ENSP00000496683.1:n.922+3833C>T
ENST00000643341.1:c.922+3833C>T (POLR1C) ENSP00000496018.1:n.922+3833C>T
ENST00000643799.1:c.*17+3564C>T (POLR1C) ENSP00000494529.1:n.*17+3564C>T
ENST00000646433.1:c.922+3833C>T (POLR1C) ENSP00000494368.1:n.922+3833C>T
ENST00000646700.1:c.922+3833C>T (POLR1C) ENSP00000495521.1:n.922+3833C>T
ENST00000265351.11:c.3262G>A (XPO5) ENSP00000265351.7:p.Gly1088Arg
ENST00000304004.7:c.922+3833C>T (POLR1C) ENSP00000307212.3:n.922+3833C>T
ENST00000455285.2:c.606G>A (XPO5)
ENST00000455854.2:n.1745G>A (XPO5)
ENST00000486936.2:c.449G>A (XPO5)
ENST00000488195.6:n.659G>A (XPO5)
NM_020750.2:c.3262G>A (XPO5) NP_065801.1:p.Gly1088Arg
XM_005249491.1:c.922+3833C>T (POLR1C) XP_005249548.1:n.922+3833C>T
XM_011515000.1:c.922+3833C>T (POLR1C) XP_011513302.1:n.922+3833C>T
NM_001318876.1:c.922+3833C>T (POLR1C) NP_001305805.1:n.922+3833C>T
NM_001363658.1:c.922+3833C>T (POLR1C) NP_001350587.1:n.922+3833C>T
NR_144392.1:n.3611G>A (XPO5)
NM_020750.3:c.3262G>A (XPO5) MANE Select NP_065801.1:p.Gly1088Arg
NM_001363658.2:c.922+3833C>T (POLR1C) NP_001350587.1:n.922+3833C>T
NM_001318876.2:c.922+3833C>T (POLR1C) NP_001305805.1:n.922+3833C>T
NR_144392.2:n.3574G>A (XPO5)