Canonical Allele Identifier: CA3825502
Gene: POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 356877
dbSNP Id: rs148979835
gnomAD v2: 6-43488108-G-A
gnomAD v3: 6-43520370-G-A
gnomAD v4: 6-43520370-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43520370G>A , CM000668.2:g.43520370G>A GRCh38
NC_000006.11:g.43488108G>A , CM000668.1:g.43488108G>A GRCh37
NC_000006.10:g.43596086G>A NCBI36
NG_028283.1:g.8332G>A
NG_028283.3:g.15669G>A
NG_051658.1:g.60706C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000607635.2:c.598G>A ENSP00000496683.1:p.Ala200Thr
ENST00000642195.1:c.598G>A MANE Select ENSP00000496044.1:p.Ala200Thr
ENST00000643341.1:c.598G>A ENSP00000496018.1:p.Ala200Thr
ENST00000643799.1:c.598G>A ENSP00000494529.1:p.Ala200Thr
ENST00000645141.1:c.*209G>A ENSP00000496755.1:n.*209G>A
ENST00000646188.1:c.433G>A ENSP00000496001.1:p.Ala145Thr
ENST00000646433.1:c.598G>A ENSP00000494368.1:p.Ala200Thr
ENST00000646700.1:c.598G>A ENSP00000495521.1:p.Ala200Thr
ENST00000304004.7:c.598G>A ENSP00000307212.3:p.Ala200Thr
ENST00000372344.6:c.598G>A ENSP00000361419.2:p.Ala200Thr
ENST00000372389.7:c.598G>A ENSP00000361465.3:p.Ala200Thr
ENST00000455605.2:n.891G>A
ENST00000481352.6:n.970G>A
ENST00000488601.6:n.837G>A
NM_203290.2:c.598G>A NP_976035.1:p.Ala200Thr
XM_005249491.1:c.598G>A XP_005249548.1:p.Ala200Thr
XM_011515000.1:c.598G>A XP_011513302.1:p.Ala200Thr
NM_001318876.1:c.598G>A NP_001305805.1:p.Ala200Thr
NM_001363658.1:c.598G>A NP_001350587.1:p.Ala200Thr
NM_203290.3:c.598G>A NP_976035.1:p.Ala200Thr
NM_203290.4:c.598G>A MANE Select NP_976035.1:p.Ala200Thr
NM_001363658.2:c.598G>A NP_001350587.1:p.Ala200Thr
NM_001318876.2:c.598G>A NP_001305805.1:p.Ala200Thr