Canonical Allele Identifier: CA2678874278

Linked Data

gnomAD v4: 6-43523217-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43523217C>A , CM000668.2:g.43523217C>A GRCh38
NC_000006.11:g.43490955C>A , CM000668.1:g.43490955C>A GRCh37
NC_000006.10:g.43598933C>A NCBI36
NG_028283.1:g.11179C>A
NG_028283.3:g.18516C>A
NG_051658.1:g.57859G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265351.12:c.*651G>T (XPO5) MANE Select ENSP00000265351.7:n.*651G>T
ENST00000607635.2:c.922+2169C>A (POLR1C) ENSP00000496683.1:n.922+2169C>A
ENST00000643341.1:c.922+2169C>A (POLR1C) ENSP00000496018.1:n.922+2169C>A
ENST00000643799.1:c.*17+1900C>A (POLR1C) ENSP00000494529.1:n.*17+1900C>A
ENST00000646433.1:c.922+2169C>A (POLR1C) ENSP00000494368.1:n.922+2169C>A
ENST00000646700.1:c.922+2169C>A (POLR1C) ENSP00000495521.1:n.922+2169C>A
ENST00000265351.11:c.*651G>T (XPO5) ENSP00000265351.7:n.*651G>T
ENST00000304004.7:c.922+2169C>A (POLR1C) ENSP00000307212.3:n.922+2169C>A
ENST00000455854.2:n.2749G>T (XPO5)
NM_020750.2:c.*651G>T (XPO5) NP_065801.1:n.*651G>T
XM_005249491.1:c.922+2169C>A (POLR1C) XP_005249548.1:n.922+2169C>A
XM_011515000.1:c.922+2169C>A (POLR1C) XP_011513302.1:n.922+2169C>A
NM_001318876.1:c.922+2169C>A (POLR1C) NP_001305805.1:n.922+2169C>A
NM_001363658.1:c.922+2169C>A (POLR1C) NP_001350587.1:n.922+2169C>A
NR_144392.1:n.4615G>T (XPO5)
NM_020750.3:c.*651G>T (XPO5) MANE Select NP_065801.1:n.*651G>T
NM_001363658.2:c.922+2169C>A (POLR1C) NP_001350587.1:n.922+2169C>A
NM_001318876.2:c.922+2169C>A (POLR1C) NP_001305805.1:n.922+2169C>A
NR_144392.2:n.4578G>T (XPO5)