Canonical Allele Identifier: CA2678874311

Linked Data

gnomAD v4: 6-43523229-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43523229G>T , CM000668.2:g.43523229G>T GRCh38
NC_000006.11:g.43490967G>T , CM000668.1:g.43490967G>T GRCh37
NC_000006.10:g.43598945G>T NCBI36
NG_028283.1:g.11191G>T
NG_028283.3:g.18528G>T
NG_051658.1:g.57847C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265351.12:c.*639C>A (XPO5) MANE Select ENSP00000265351.7:n.*639C>A
ENST00000607635.2:c.922+2181G>T (POLR1C) ENSP00000496683.1:n.922+2181G>T
ENST00000643341.1:c.922+2181G>T (POLR1C) ENSP00000496018.1:n.922+2181G>T
ENST00000643799.1:c.*17+1912G>T (POLR1C) ENSP00000494529.1:n.*17+1912G>T
ENST00000646433.1:c.922+2181G>T (POLR1C) ENSP00000494368.1:n.922+2181G>T
ENST00000646700.1:c.922+2181G>T (POLR1C) ENSP00000495521.1:n.922+2181G>T
ENST00000265351.11:c.*639C>A (XPO5) ENSP00000265351.7:n.*639C>A
ENST00000304004.7:c.922+2181G>T (POLR1C) ENSP00000307212.3:n.922+2181G>T
ENST00000455854.2:n.2737C>A (XPO5)
NM_020750.2:c.*639C>A (XPO5) NP_065801.1:n.*639C>A
XM_005249491.1:c.922+2181G>T (POLR1C) XP_005249548.1:n.922+2181G>T
XM_011515000.1:c.922+2181G>T (POLR1C) XP_011513302.1:n.922+2181G>T
NM_001318876.1:c.922+2181G>T (POLR1C) NP_001305805.1:n.922+2181G>T
NM_001363658.1:c.922+2181G>T (POLR1C) NP_001350587.1:n.922+2181G>T
NR_144392.1:n.4603C>A (XPO5)
NM_020750.3:c.*639C>A (XPO5) MANE Select NP_065801.1:n.*639C>A
NM_001363658.2:c.922+2181G>T (POLR1C) NP_001350587.1:n.922+2181G>T
NM_001318876.2:c.922+2181G>T (POLR1C) NP_001305805.1:n.922+2181G>T
NR_144392.2:n.4566C>A (XPO5)