Canonical Allele Identifier: CA2678869127

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43519846-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519846A>C , CM000668.2:g.43519846A>C	GRCh38
NC_000006.11:g.43487584A>C , CM000668.1:g.43487584A>C	GRCh37
NC_000006.10:g.43595562A>C	NCBI36
NG_028283.1:g.7808A>C
NG_028283.3:g.15145A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.382+8A>C	ENSP00000496683.1:n.382+8A>C
ENST00000642195.1:c.382+8A>C MANE Select	ENSP00000496044.1:n.382+8A>C
ENST00000643341.1:c.382+8A>C	ENSP00000496018.1:n.382+8A>C
ENST00000643799.1:c.382+8A>C	ENSP00000494529.1:n.382+8A>C
ENST00000645141.1:c.390A>C	ENSP00000496755.1:p.Lys130Asn
ENST00000646188.1:c.217+8A>C	ENSP00000496001.1:n.217+8A>C
ENST00000646433.1:c.382+8A>C	ENSP00000494368.1:n.382+8A>C
ENST00000646700.1:c.382+8A>C	ENSP00000495521.1:n.382+8A>C
ENST00000304004.7:c.382+8A>C	ENSP00000307212.3:n.382+8A>C
ENST00000372344.6:c.382+8A>C	ENSP00000361419.2:n.382+8A>C
ENST00000372389.7:c.382+8A>C	ENSP00000361465.3:n.382+8A>C
ENST00000423780.1:c.380+8A>C
ENST00000428025.6:c.217+8A>C	ENSP00000395401.2:n.217+8A>C
ENST00000455605.2:n.367A>C
ENST00000481352.6:n.446A>C
ENST00000488601.6:n.402A>C
NM_203290.2:c.382+8A>C	NP_976035.1:n.382+8A>C
XM_005249491.1:c.382+8A>C	XP_005249548.1:n.382+8A>C
XM_011515000.1:c.382+8A>C	XP_011513302.1:n.382+8A>C
NM_001318876.1:c.382+8A>C	NP_001305805.1:n.382+8A>C
NM_001363658.1:c.382+8A>C	NP_001350587.1:n.382+8A>C
NM_203290.3:c.382+8A>C	NP_976035.1:n.382+8A>C
NM_203290.4:c.382+8A>C MANE Select	NP_976035.1:n.382+8A>C
NM_001363658.2:c.382+8A>C	NP_001350587.1:n.382+8A>C
NM_001318876.2:c.382+8A>C	NP_001305805.1:n.382+8A>C