Canonical Allele Identifier: CA247287098

Gene: POLR1D

Linked Data

• dbSNP Id: rs777412814
• gnomAD v2: 13-28197059-C-T
• gnomAD v4: 13-27622922-C-T
• MyVariant Identifiers: chr13:g.28197059C>T (hg19) ; chr13:g.27622922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27622922C>T , CM000675.2:g.27622922C>T	GRCh38
NC_000013.10:g.28197059C>T , CM000675.1:g.28197059C>T	GRCh37
NC_000013.9:g.27095059C>T	NCBI36
NG_028908.1:g.7180C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636952.2:c.26+913C>T	ENSP00000508561.1:n.26+913C>T
ENST00000685267.1:c.26+913C>T	ENSP00000508576.1:n.26+913C>T
ENST00000692944.1:c.26+913C>T	ENSP00000510286.1:n.26+913C>T
ENST00000693488.1:c.-59+1485C>T	ENSP00000508846.1:n.-59+1485C>T
ENST00000302979.5:c.74C>T MANE Select	ENSP00000302478.4:p.Thr25Ile
ENST00000636817.1:c.26+913C>T	ENSP00000490310.1:n.26+913C>T
ENST00000637071.1:c.-84+913C>T	ENSP00000489713.1:n.-84+913C>T
ENST00000637180.1:c.-59+1485C>T	ENSP00000490619.1:n.-59+1485C>T
ENST00000637389.1:n.71+1659C>T
ENST00000302979.4:c.74C>T	ENSP00000302478.3:p.Thr25Ile
ENST00000399696.3:c.23C>T	ENSP00000382603.2:p.Thr8Ile
ENST00000399697.7:c.26+913C>T	ENSP00000382604.3:n.26+913C>T
ENST00000465887.2:c.26+913C>T	ENSP00000487057.1:n.26+913C>T
ENST00000489647.4:c.26+913C>T	ENSP00000483656.1:n.26+913C>T
ENST00000621089.2:c.-59+1782C>T	ENSP00000478213.1:n.-59+1782C>T
ENST00000627604.1:c.-59+1485C>T	ENSP00000486327.1:n.-59+1485C>T
ENST00000630983.1:c.26+913C>T	ENSP00000486928.1:n.26+913C>T
NM_001206559.1:c.-59+1782C>T	NP_001193488.1:n.-59+1782C>T
NM_015972.3:c.74C>T	NP_057056.1:p.Thr25Ile
NM_152705.2:c.26+913C>T	NP_689918.1:n.26+913C>T
XM_005266412.1:c.74C>T	XP_005266469.1:p.Thr25Ile
XM_005266414.1:c.26+913C>T	XP_005266471.1:n.26+913C>T
XM_005266412.2:c.74C>T	XP_005266469.1:p.Thr25Ile
NM_001206559.2:c.-59+1782C>T	NP_001193488.1:n.-59+1782C>T
NM_001374407.1:c.74C>T	NP_001361336.1:p.Thr25Ile
NM_015972.4:c.74C>T MANE Select	NP_057056.1:p.Thr25Ile
NM_152705.3:c.26+913C>T	NP_689918.1:n.26+913C>T