Canonical Allele Identifier: CA364276685

Gene: POLH POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.43555170C>A (hg19) ; chr6:g.43587433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587433C>A , CM000668.2:g.43587433C>A	GRCh38
NC_000006.11:g.43555170C>A , CM000668.1:g.43555170C>A	GRCh37
NC_000006.10:g.43663148C>A	NCBI36
NG_009252.1:g.16293C>A , LRG_470:g.16293C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.434C>A (POLH) MANE Select	ENSP00000361310.4:p.Thr145Asn
ENST00000372226.1:c.434C>A (POLH)	ENSP00000361300.1:p.Thr145Asn
ENST00000372236.8:c.434C>A (POLH)	ENSP00000361310.4:p.Thr145Asn
NM_001291969.1:c.118+4292C>A (POLH)	NP_001278898.1:n.118+4292C>A
NM_001291970.1:c.434C>A (POLH)	NP_001278899.1:p.Thr145Asn
NM_006502.2:c.434C>A , LRG_470t1:c.434C>A (POLH)	NP_006493.1:p.Thr145Asn
XM_005249186.2:c.248C>A (POLH)	XP_005249243.1:p.Thr83Asn
XM_011514698.1:c.118+4292C>A (POLH)	XP_011513000.1:n.118+4292C>A
XM_005249186.4:c.248C>A (POLH)	XP_005249243.1:p.Thr83Asn
XM_011514698.3:c.118+4292C>A (POLH)	XP_011513000.1:n.118+4292C>A
XM_024446466.1:c.182C>A (POLH)	XP_024302234.1:p.Thr61Asn
XM_024446467.1:c.-186C>A (POLH)	XP_024302235.1:n.-186C>A
NM_001291969.2:c.118+4292C>A (POLH)	NP_001278898.1:n.118+4292C>A
NM_001291970.2:c.434C>A (POLH)	NP_001278899.1:p.Thr145Asn
NM_006502.3:c.434C>A (POLH) MANE Select	NP_006493.1:p.Thr145Asn
NM_001318876.2:c.945+58162C>A (POLR1C)	NP_001305805.1:n.945+58162C>A