Canonical Allele Identifier: CA450292584

Linked Data

MyVariant Identifiers: chr6:g.43492242G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43524504G>A , CM000668.2:g.43524504G>A GRCh38
NC_000006.11:g.43492242G>A , CM000668.1:g.43492242G>A GRCh37
NC_000006.10:g.43600220G>A NCBI36
NG_028283.3:g.19803G>A
NG_051658.1:g.56572C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265351.12:c.3444C>T (XPO5) MANE Select ENSP00000265351.7:p.Asp1148=
ENST00000607635.2:c.922+3456G>A (POLR1C) ENSP00000496683.1:n.922+3456G>A
ENST00000643341.1:c.922+3456G>A (POLR1C) ENSP00000496018.1:n.922+3456G>A
ENST00000643799.1:c.*17+3187G>A (POLR1C) ENSP00000494529.1:n.*17+3187G>A
ENST00000646433.1:c.922+3456G>A (POLR1C) ENSP00000494368.1:n.922+3456G>A
ENST00000646700.1:c.922+3456G>A (POLR1C) ENSP00000495521.1:n.922+3456G>A
ENST00000265351.11:c.3444C>T (XPO5) ENSP00000265351.7:p.Asp1148=
ENST00000304004.7:c.922+3456G>A (POLR1C) ENSP00000307212.3:n.922+3456G>A
ENST00000455854.2:n.1927C>T (XPO5)
ENST00000488195.6:n.841C>T (XPO5)
NM_020750.2:c.3444C>T (XPO5) NP_065801.1:p.Asp1148=
XM_005249491.1:c.922+3456G>A (POLR1C) XP_005249548.1:n.922+3456G>A
XM_011515000.1:c.922+3456G>A (POLR1C) XP_011513302.1:n.922+3456G>A
NM_001318876.1:c.922+3456G>A (POLR1C) NP_001305805.1:n.922+3456G>A
NM_001363658.1:c.922+3456G>A (POLR1C) NP_001350587.1:n.922+3456G>A
NR_144392.1:n.3793C>T (XPO5)
NM_020750.3:c.3444C>T (XPO5) MANE Select NP_065801.1:p.Asp1148=
NM_001363658.2:c.922+3456G>A (POLR1C) NP_001350587.1:n.922+3456G>A
NM_001318876.2:c.922+3456G>A (POLR1C) NP_001305805.1:n.922+3456G>A
NR_144392.2:n.3756C>T (XPO5)