Canonical Allele Identifier: CA1624558505
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1793046627
gnomAD v4: 6-43519864-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43519864G>T , CM000668.2:g.43519864G>T GRCh38
NC_000006.11:g.43487602G>T , CM000668.1:g.43487602G>T GRCh37
NC_000006.10:g.43595580G>T NCBI36
NG_028283.1:g.7826G>T
NG_028283.3:g.15163G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000607635.2:c.382+26G>T ENSP00000496683.1:n.382+26G>T
ENST00000642195.1:c.382+26G>T MANE Select ENSP00000496044.1:n.382+26G>T
ENST00000643341.1:c.382+26G>T ENSP00000496018.1:n.382+26G>T
ENST00000643799.1:c.382+26G>T ENSP00000494529.1:n.382+26G>T
ENST00000645141.1:c.408G>T ENSP00000496755.1:p.Lys136Asn
ENST00000646188.1:c.217+26G>T ENSP00000496001.1:n.217+26G>T
ENST00000646433.1:c.382+26G>T ENSP00000494368.1:n.382+26G>T
ENST00000646700.1:c.382+26G>T ENSP00000495521.1:n.382+26G>T
ENST00000304004.7:c.382+26G>T ENSP00000307212.3:n.382+26G>T
ENST00000372344.6:c.382+26G>T ENSP00000361419.2:n.382+26G>T
ENST00000372389.7:c.382+26G>T ENSP00000361465.3:n.382+26G>T
ENST00000423780.1:c.380+26G>T
ENST00000428025.6:c.217+26G>T ENSP00000395401.2:n.217+26G>T
ENST00000455605.2:n.385G>T
ENST00000481352.6:n.464G>T
ENST00000488601.6:n.420G>T
NM_203290.2:c.382+26G>T NP_976035.1:n.382+26G>T
XM_005249491.1:c.382+26G>T XP_005249548.1:n.382+26G>T
XM_011515000.1:c.382+26G>T XP_011513302.1:n.382+26G>T
NM_001318876.1:c.382+26G>T NP_001305805.1:n.382+26G>T
NM_001363658.1:c.382+26G>T NP_001350587.1:n.382+26G>T
NM_203290.3:c.382+26G>T NP_976035.1:n.382+26G>T
NM_203290.4:c.382+26G>T MANE Select NP_976035.1:n.382+26G>T
NM_001363658.2:c.382+26G>T NP_001350587.1:n.382+26G>T
NM_001318876.2:c.382+26G>T NP_001305805.1:n.382+26G>T