Canonical Allele Identifier: CA138328974

Gene: XPO5 POLR1C

Linked Data

• dbSNP Id: rs972657267
• gnomAD v3: 6-43524283-C-T
• gnomAD v4: 6-43524283-C-T
• MyVariant Identifiers: chr6:g.43492021C>T (hg19) ; chr6:g.43524283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524283C>T , CM000668.2:g.43524283C>T	GRCh38
NC_000006.11:g.43492021C>T , CM000668.1:g.43492021C>T	GRCh37
NC_000006.10:g.43599999C>T	NCBI36
NG_028283.3:g.19582C>T
NG_051658.1:g.56793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265351.12:c.3477+188G>A (XPO5) MANE Select	ENSP00000265351.7:n.3477+188G>A
ENST00000607635.2:c.922+3235C>T (POLR1C)	ENSP00000496683.1:n.922+3235C>T
ENST00000643341.1:c.922+3235C>T (POLR1C)	ENSP00000496018.1:n.922+3235C>T
ENST00000643799.1:c.*17+2966C>T (POLR1C)	ENSP00000494529.1:n.*17+2966C>T
ENST00000646433.1:c.922+3235C>T (POLR1C)	ENSP00000494368.1:n.922+3235C>T
ENST00000646700.1:c.922+3235C>T (POLR1C)	ENSP00000495521.1:n.922+3235C>T
ENST00000265351.11:c.3477+188G>A (XPO5)	ENSP00000265351.7:n.3477+188G>A
ENST00000304004.7:c.922+3235C>T (POLR1C)	ENSP00000307212.3:n.922+3235C>T
ENST00000455854.2:n.1960+188G>A (XPO5)
NM_020750.2:c.3477+188G>A (XPO5)	NP_065801.1:n.3477+188G>A
XM_005249491.1:c.922+3235C>T (POLR1C)	XP_005249548.1:n.922+3235C>T
XM_011515000.1:c.922+3235C>T (POLR1C)	XP_011513302.1:n.922+3235C>T
NM_001318876.1:c.922+3235C>T (POLR1C)	NP_001305805.1:n.922+3235C>T
NM_001363658.1:c.922+3235C>T (POLR1C)	NP_001350587.1:n.922+3235C>T
NR_144392.1:n.3826+188G>A (XPO5)
NM_020750.3:c.3477+188G>A (XPO5) MANE Select	NP_065801.1:n.3477+188G>A
NM_001363658.2:c.922+3235C>T (POLR1C)	NP_001350587.1:n.922+3235C>T
NM_001318876.2:c.922+3235C>T (POLR1C)	NP_001305805.1:n.922+3235C>T
NR_144392.2:n.3789+188G>A (XPO5)