Canonical Allele Identifier: CA364276302

Gene: POLH POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.43555096T>A (hg19) ; chr6:g.43587359T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587359T>A , CM000668.2:g.43587359T>A	GRCh38
NC_000006.11:g.43555096T>A , CM000668.1:g.43555096T>A	GRCh37
NC_000006.10:g.43663074T>A	NCBI36
NG_009252.1:g.16219T>A , LRG_470:g.16219T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.360T>A (POLH) MANE Select	ENSP00000361310.4:p.Asp120Glu
ENST00000372226.1:c.360T>A (POLH)	ENSP00000361300.1:p.Asp120Glu
ENST00000372236.8:c.360T>A (POLH)	ENSP00000361310.4:p.Asp120Glu
ENST00000443535.1:c.174T>A (POLH)	ENSP00000405320.1:p.Asp58Glu
NM_001291969.1:c.118+4218T>A (POLH)	NP_001278898.1:n.118+4218T>A
NM_001291970.1:c.360T>A (POLH)	NP_001278899.1:p.Asp120Glu
NM_006502.2:c.360T>A , LRG_470t1:c.360T>A (POLH)	NP_006493.1:p.Asp120Glu
XM_005249186.2:c.174T>A (POLH)	XP_005249243.1:p.Asp58Glu
XM_011514698.1:c.118+4218T>A (POLH)	XP_011513000.1:n.118+4218T>A
XM_005249186.4:c.174T>A (POLH)	XP_005249243.1:p.Asp58Glu
XM_011514698.3:c.118+4218T>A (POLH)	XP_011513000.1:n.118+4218T>A
XM_024446466.1:c.108T>A (POLH)	XP_024302234.1:p.Asp36Glu
XM_024446467.1:c.-260T>A (POLH)	XP_024302235.1:n.-260T>A
NM_001291969.2:c.118+4218T>A (POLH)	NP_001278898.1:n.118+4218T>A
NM_001291970.2:c.360T>A (POLH)	NP_001278899.1:p.Asp120Glu
NM_006502.3:c.360T>A (POLH) MANE Select	NP_006493.1:p.Asp120Glu
NM_001318876.2:c.945+58088T>A (POLR1C)	NP_001305805.1:n.945+58088T>A