Canonical Allele Identifier: CA10623997

Gene: POLH POLR1C

Linked Data

• ClinVar Variation Id: 356891
• ClinVar RCV Id: RCV000400586
• dbSNP Id: rs886061431
• MyVariant Identifiers: chr6:g.43543966C>T (hg19) ; chr6:g.43576229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43576229C>T , CM000668.2:g.43576229C>T	GRCh38
NC_000006.11:g.43543966C>T , CM000668.1:g.43543966C>T	GRCh37
NC_000006.10:g.43651944C>T	NCBI36
NG_009252.1:g.5089C>T , LRG_470:g.5089C>T
NG_051658.1:g.4847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.-216C>T (POLH) MANE Select	ENSP00000361310.4:n.-216C>T
ENST00000372236.8:c.-216C>T (POLH)	ENSP00000361310.4:n.-216C>T
NM_001291969.1:c.-229C>T (POLH)	NP_001278898.1:n.-229C>T
NM_001291970.1:c.-216C>T (POLH)	NP_001278899.1:n.-216C>T
NM_006502.2:c.-216C>T , LRG_470t1:c.-216C>T (POLH)	NP_006493.1:n.-216C>T
XM_005249186.2:c.-261C>T (POLH)	XP_005249243.1:n.-261C>T
XM_011514698.1:c.-370C>T (POLH)	XP_011513000.1:n.-370C>T
XM_005249186.4:c.-261C>T (POLH)	XP_005249243.1:n.-261C>T
XM_011514698.3:c.-370C>T (POLH)	XP_011513000.1:n.-370C>T
XM_024446466.1:c.-3219C>T (POLH)	XP_024302234.1:n.-3219C>T
XM_024446467.1:c.-835C>T (POLH)	XP_024302235.1:n.-835C>T
NM_001291969.2:c.-229C>T (POLH)	NP_001278898.1:n.-229C>T
NM_001291970.2:c.-216C>T (POLH)	NP_001278899.1:n.-216C>T
NM_006502.3:c.-216C>T (POLH) MANE Select	NP_006493.1:n.-216C>T
NM_001318876.2:c.945+46958C>T (POLR1C)	NP_001305805.1:n.945+46958C>T