Canonical Allele Identifier: CA1088394434

Gene: POLR1C

Linked Data

• dbSNP Id: rs1793047146
• gnomAD v3: 6-43519870-T-C
• gnomAD v4: 6-43519870-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519870T>C , CM000668.2:g.43519870T>C	GRCh38
NC_000006.11:g.43487608T>C , CM000668.1:g.43487608T>C	GRCh37
NC_000006.10:g.43595586T>C	NCBI36
NG_028283.1:g.7832T>C
NG_028283.3:g.15169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.382+32T>C	ENSP00000496683.1:n.382+32T>C
ENST00000642195.1:c.382+32T>C MANE Select	ENSP00000496044.1:n.382+32T>C
ENST00000643341.1:c.382+32T>C	ENSP00000496018.1:n.382+32T>C
ENST00000643799.1:c.382+32T>C	ENSP00000494529.1:n.382+32T>C
ENST00000645141.1:c.414T>C	ENSP00000496755.1:p.Thr138=
ENST00000646188.1:c.217+32T>C	ENSP00000496001.1:n.217+32T>C
ENST00000646433.1:c.382+32T>C	ENSP00000494368.1:n.382+32T>C
ENST00000646700.1:c.382+32T>C	ENSP00000495521.1:n.382+32T>C
ENST00000304004.7:c.382+32T>C	ENSP00000307212.3:n.382+32T>C
ENST00000372344.6:c.382+32T>C	ENSP00000361419.2:n.382+32T>C
ENST00000372389.7:c.382+32T>C	ENSP00000361465.3:n.382+32T>C
ENST00000423780.1:c.380+32T>C
ENST00000428025.6:c.217+32T>C	ENSP00000395401.2:n.217+32T>C
ENST00000455605.2:n.391T>C
ENST00000481352.6:n.470T>C
ENST00000488601.6:n.426T>C
NM_203290.2:c.382+32T>C	NP_976035.1:n.382+32T>C
XM_005249491.1:c.382+32T>C	XP_005249548.1:n.382+32T>C
XM_011515000.1:c.382+32T>C	XP_011513302.1:n.382+32T>C
NM_001318876.1:c.382+32T>C	NP_001305805.1:n.382+32T>C
NM_001363658.1:c.382+32T>C	NP_001350587.1:n.382+32T>C
NM_203290.3:c.382+32T>C	NP_976035.1:n.382+32T>C
NM_203290.4:c.382+32T>C MANE Select	NP_976035.1:n.382+32T>C
NM_001363658.2:c.382+32T>C	NP_001350587.1:n.382+32T>C
NM_001318876.2:c.382+32T>C	NP_001305805.1:n.382+32T>C