Canonical Allele Identifier: CA450292897

Gene: POLH POLR1C

Linked Data

• dbSNP Id: rs1204955095
• gnomAD v2: 6-43555081-T-C
• MyVariant Identifiers: chr6:g.43555081T>C (hg19) ; chr6:g.43587344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587344T>C , CM000668.2:g.43587344T>C	GRCh38
NC_000006.11:g.43555081T>C , CM000668.1:g.43555081T>C	GRCh37
NC_000006.10:g.43663059T>C	NCBI36
NG_009252.1:g.16204T>C , LRG_470:g.16204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.345T>C (POLH) MANE Select	ENSP00000361310.4:p.Asp115=
ENST00000372226.1:c.345T>C (POLH)	ENSP00000361300.1:p.Asp115=
ENST00000372236.8:c.345T>C (POLH)	ENSP00000361310.4:p.Asp115=
ENST00000443535.1:c.159T>C (POLH)	ENSP00000405320.1:p.Asp53=
NM_001291969.1:c.118+4203T>C (POLH)	NP_001278898.1:n.118+4203T>C
NM_001291970.1:c.345T>C (POLH)	NP_001278899.1:p.Asp115=
NM_006502.2:c.345T>C , LRG_470t1:c.345T>C (POLH)	NP_006493.1:p.Asp115=
XM_005249186.2:c.159T>C (POLH)	XP_005249243.1:p.Asp53=
XM_011514698.1:c.118+4203T>C (POLH)	XP_011513000.1:n.118+4203T>C
XM_005249186.4:c.159T>C (POLH)	XP_005249243.1:p.Asp53=
XM_011514698.3:c.118+4203T>C (POLH)	XP_011513000.1:n.118+4203T>C
XM_024446466.1:c.93T>C (POLH)	XP_024302234.1:p.Asp31=
XM_024446467.1:c.-275T>C (POLH)	XP_024302235.1:n.-275T>C
NM_001291969.2:c.118+4203T>C (POLH)	NP_001278898.1:n.118+4203T>C
NM_001291970.2:c.345T>C (POLH)	NP_001278899.1:p.Asp115=
NM_006502.3:c.345T>C (POLH) MANE Select	NP_006493.1:p.Asp115=
NM_001318876.2:c.945+58073T>C (POLR1C)	NP_001305805.1:n.945+58073T>C