Canonical Allele Identifier: CA364285324
Community Standard Title: NM_203290.4(POLR1C):c.970G>A (p.Glu324Lys)
Gene: POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43521229G>A , CM000668.2:g.43521229G>A GRCh38
NC_000006.11:g.43488967G>A , CM000668.1:g.43488967G>A GRCh37
NC_000006.10:g.43596945G>A NCBI36
NG_028283.1:g.9191G>A
NG_028283.3:g.16528G>A
NG_051658.1:g.59847C>T

Transcript Alleles

HGVS Amino-acid Change
NM_203290.4:c.970G>A MANE Select NP_976035.1:p.Glu324Lys
ENST00000642195.1:c.970G>A MANE Select ENSP00000496044.1:p.Glu324Lys
NM_001318876.1:c.922+181G>A NP_001305805.1:n.922+181G>A
NM_001318876.2:c.922+181G>A NP_001305805.1:n.922+181G>A
NM_001363658.1:c.922+181G>A NP_001350587.1:n.922+181G>A
NM_001363658.2:c.922+181G>A NP_001350587.1:n.922+181G>A
NM_203290.2:c.970G>A NP_976035.1:p.Glu324Lys
NM_203290.3:c.970G>A NP_976035.1:p.Glu324Lys
ENST00000304004.7:c.922+181G>A ENSP00000307212.3:n.922+181G>A
ENST00000372344.6:c.820G>A ENSP00000361419.2:p.Glu274Lys
ENST00000372389.7:c.970G>A ENSP00000361465.3:p.Glu324Lys
ENST00000455605.2:n.1617G>A
ENST00000481352.6:n.1475G>A
ENST00000607635.2:c.922+181G>A ENSP00000496683.1:n.922+181G>A
ENST00000643341.1:c.922+181G>A ENSP00000496018.1:n.922+181G>A
ENST00000643799.1:c.820G>A ENSP00000494529.1:p.Glu274Lys
ENST00000645141.1:c.*581G>A ENSP00000496755.1:n.*581G>A
ENST00000646188.1:c.805G>A ENSP00000496001.1:p.Glu269Lys
ENST00000646433.1:c.922+181G>A ENSP00000494368.1:n.922+181G>A
ENST00000646700.1:c.922+181G>A ENSP00000495521.1:n.922+181G>A
XM_005249491.1:c.922+181G>A XP_005249548.1:n.922+181G>A
XM_011515000.1:c.922+181G>A XP_011513302.1:n.922+181G>A