Canonical Allele Identifier: CA387635218
Gene: POLR1D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27623023A>G , CM000675.2:g.27623023A>G GRCh38
NC_000013.10:g.28197160A>G , CM000675.1:g.28197160A>G GRCh37
NC_000013.9:g.27095160A>G NCBI36
NG_028908.1:g.7281A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636952.2:c.26+1014A>G ENSP00000508561.1:n.26+1014A>G
ENST00000685267.1:c.26+1014A>G ENSP00000508576.1:n.26+1014A>G
ENST00000692944.1:c.26+1014A>G ENSP00000510286.1:n.26+1014A>G
ENST00000693488.1:c.-59+1586A>G ENSP00000508846.1:n.-59+1586A>G
ENST00000302979.5:c.175A>G MANE Select ENSP00000302478.4:p.Ile59Val
ENST00000636817.1:c.26+1014A>G ENSP00000490310.1:n.26+1014A>G
ENST00000637071.1:c.-84+1014A>G ENSP00000489713.1:n.-84+1014A>G
ENST00000637180.1:c.-59+1586A>G ENSP00000490619.1:n.-59+1586A>G
ENST00000637389.1:n.71+1760A>G
ENST00000302979.4:c.175A>G ENSP00000302478.3:p.Ile59Val
ENST00000399696.3:c.124A>G ENSP00000382603.2:p.Ile42Val
ENST00000399697.7:c.26+1014A>G ENSP00000382604.3:n.26+1014A>G
ENST00000465887.2:c.26+1014A>G ENSP00000487057.1:n.26+1014A>G
ENST00000489647.4:c.26+1014A>G ENSP00000483656.1:n.26+1014A>G
ENST00000621089.2:c.-59+1883A>G ENSP00000478213.1:n.-59+1883A>G
ENST00000627604.1:c.-59+1586A>G ENSP00000486327.1:n.-59+1586A>G
ENST00000630983.1:c.26+1014A>G ENSP00000486928.1:n.26+1014A>G
NM_001206559.1:c.-59+1883A>G NP_001193488.1:n.-59+1883A>G
NM_015972.3:c.175A>G NP_057056.1:p.Ile59Val
NM_152705.2:c.26+1014A>G NP_689918.1:n.26+1014A>G
XM_005266412.1:c.175A>G XP_005266469.1:p.Ile59Val
XM_005266414.1:c.26+1014A>G XP_005266471.1:n.26+1014A>G
XM_005266412.2:c.175A>G XP_005266469.1:p.Ile59Val
NM_001206559.2:c.-59+1883A>G NP_001193488.1:n.-59+1883A>G
NM_001374407.1:c.175A>G NP_001361336.1:p.Ile59Val
NM_015972.4:c.175A>G MANE Select NP_057056.1:p.Ile59Val
NM_152705.3:c.26+1014A>G NP_689918.1:n.26+1014A>G