Canonical Allele Identifier: CA2678874294

Gene: XPO5 POLR1C

Linked Data

• gnomAD v4: 6-43523221-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43523221T>C , CM000668.2:g.43523221T>C	GRCh38
NC_000006.11:g.43490959T>C , CM000668.1:g.43490959T>C	GRCh37
NC_000006.10:g.43598937T>C	NCBI36
NG_028283.1:g.11183T>C
NG_028283.3:g.18520T>C
NG_051658.1:g.57855A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265351.12:c.*647A>G (XPO5) MANE Select	ENSP00000265351.7:n.*647A>G
ENST00000607635.2:c.922+2173T>C (POLR1C)	ENSP00000496683.1:n.922+2173T>C
ENST00000643341.1:c.922+2173T>C (POLR1C)	ENSP00000496018.1:n.922+2173T>C
ENST00000643799.1:c.*17+1904T>C (POLR1C)	ENSP00000494529.1:n.*17+1904T>C
ENST00000646433.1:c.922+2173T>C (POLR1C)	ENSP00000494368.1:n.922+2173T>C
ENST00000646700.1:c.922+2173T>C (POLR1C)	ENSP00000495521.1:n.922+2173T>C
ENST00000265351.11:c.*647A>G (XPO5)	ENSP00000265351.7:n.*647A>G
ENST00000304004.7:c.922+2173T>C (POLR1C)	ENSP00000307212.3:n.922+2173T>C
ENST00000455854.2:n.2745A>G (XPO5)
NM_020750.2:c.*647A>G (XPO5)	NP_065801.1:n.*647A>G
XM_005249491.1:c.922+2173T>C (POLR1C)	XP_005249548.1:n.922+2173T>C
XM_011515000.1:c.922+2173T>C (POLR1C)	XP_011513302.1:n.922+2173T>C
NM_001318876.1:c.922+2173T>C (POLR1C)	NP_001305805.1:n.922+2173T>C
NM_001363658.1:c.922+2173T>C (POLR1C)	NP_001350587.1:n.922+2173T>C
NR_144392.1:n.4611A>G (XPO5)
NM_020750.3:c.*647A>G (XPO5) MANE Select	NP_065801.1:n.*647A>G
NM_001363658.2:c.922+2173T>C (POLR1C)	NP_001350587.1:n.922+2173T>C
NM_001318876.2:c.922+2173T>C (POLR1C)	NP_001305805.1:n.922+2173T>C
NR_144392.2:n.4574A>G (XPO5)