Canonical Allele Identifier: CA15428630

Gene: XPO5 POLR1C

Linked Data

• dbSNP Id: rs11077
• gnomAD v2: 6-43490947-T-G
• gnomAD v3: 6-43523209-T-G
• gnomAD v4: 6-43523209-T-G
• MyVariant Identifiers: chr6:g.43490947T>G (hg19) ; chr6:g.43523209T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43523209T>G , CM000668.2:g.43523209T>G	GRCh38
NC_000006.11:g.43490947T>G , CM000668.1:g.43490947T>G	GRCh37
NC_000006.10:g.43598925T>G	NCBI36
NG_028283.1:g.11171T>G
NG_028283.3:g.18508T>G
NG_051658.1:g.57867A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265351.12:c.*659A>C (XPO5) MANE Select	ENSP00000265351.7:n.*659A>C
ENST00000607635.2:c.922+2161T>G (POLR1C)	ENSP00000496683.1:n.922+2161T>G
ENST00000643341.1:c.922+2161T>G (POLR1C)	ENSP00000496018.1:n.922+2161T>G
ENST00000643799.1:c.*17+1892T>G (POLR1C)	ENSP00000494529.1:n.*17+1892T>G
ENST00000646433.1:c.922+2161T>G (POLR1C)	ENSP00000494368.1:n.922+2161T>G
ENST00000646700.1:c.922+2161T>G (POLR1C)	ENSP00000495521.1:n.922+2161T>G
ENST00000265351.11:c.*659A>C (XPO5)	ENSP00000265351.7:n.*659A>C
ENST00000304004.7:c.922+2161T>G (POLR1C)	ENSP00000307212.3:n.922+2161T>G
ENST00000455854.2:n.2757A>C (XPO5)
NM_020750.2:c.*659A>C (XPO5)	NP_065801.1:n.*659A>C
XM_005249491.1:c.922+2161T>G (POLR1C)	XP_005249548.1:n.922+2161T>G
XM_011515000.1:c.922+2161T>G (POLR1C)	XP_011513302.1:n.922+2161T>G
NM_001318876.1:c.922+2161T>G (POLR1C)	NP_001305805.1:n.922+2161T>G
NM_001363658.1:c.922+2161T>G (POLR1C)	NP_001350587.1:n.922+2161T>G
NR_144392.1:n.4623A>C (XPO5)
NM_020750.3:c.*659A>C (XPO5) MANE Select	NP_065801.1:n.*659A>C
NM_001363658.2:c.922+2161T>G (POLR1C)	NP_001350587.1:n.922+2161T>G
NM_001318876.2:c.922+2161T>G (POLR1C)	NP_001305805.1:n.922+2161T>G
NR_144392.2:n.4586A>C (XPO5)