Canonical Allele Identifier: CA3825410
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs764567148
gnomAD v2: 6-43487565-A-G
gnomAD v4: 6-43519827-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43519827A>G , CM000668.2:g.43519827A>G GRCh38
NC_000006.11:g.43487565A>G , CM000668.1:g.43487565A>G GRCh37
NC_000006.10:g.43595543A>G NCBI36
NG_028283.1:g.7789A>G
NG_028283.3:g.15126A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000607635.2:c.371A>G ENSP00000496683.1:p.Tyr124Cys
ENST00000642195.1:c.371A>G MANE Select ENSP00000496044.1:p.Tyr124Cys
ENST00000643341.1:c.371A>G ENSP00000496018.1:p.Tyr124Cys
ENST00000643799.1:c.371A>G ENSP00000494529.1:p.Tyr124Cys
ENST00000645141.1:c.371A>G ENSP00000496755.1:p.Tyr124Cys
ENST00000646188.1:c.206A>G ENSP00000496001.1:p.Tyr69Cys
ENST00000646433.1:c.371A>G ENSP00000494368.1:p.Tyr124Cys
ENST00000646700.1:c.371A>G ENSP00000495521.1:p.Tyr124Cys
ENST00000304004.7:c.371A>G ENSP00000307212.3:p.Tyr124Cys
ENST00000372344.6:c.371A>G ENSP00000361419.2:p.Tyr124Cys
ENST00000372389.7:c.371A>G ENSP00000361465.3:p.Tyr124Cys
ENST00000423780.1:c.369A>G
ENST00000428025.6:c.206A>G ENSP00000395401.2:p.Tyr69Cys
ENST00000455605.2:n.348A>G
ENST00000481352.6:n.427A>G
ENST00000488601.6:n.383A>G
NM_203290.2:c.371A>G NP_976035.1:p.Tyr124Cys
XM_005249491.1:c.371A>G XP_005249548.1:p.Tyr124Cys
XM_011515000.1:c.371A>G XP_011513302.1:p.Tyr124Cys
NM_001318876.1:c.371A>G NP_001305805.1:p.Tyr124Cys
NM_001363658.1:c.371A>G NP_001350587.1:p.Tyr124Cys
NM_203290.3:c.371A>G NP_976035.1:p.Tyr124Cys
NM_203290.4:c.371A>G MANE Select NP_976035.1:p.Tyr124Cys
NM_001363658.2:c.371A>G NP_001350587.1:p.Tyr124Cys
NM_001318876.2:c.371A>G NP_001305805.1:p.Tyr124Cys