Canonical Allele Identifier: CA364276057

Gene: POLH POLR1C

Linked Data

• gnomAD v4: 6-43587310-C-T
• MyVariant Identifiers: chr6:g.43555047C>T (hg19) ; chr6:g.43587310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587310C>T , CM000668.2:g.43587310C>T	GRCh38
NC_000006.11:g.43555047C>T , CM000668.1:g.43555047C>T	GRCh37
NC_000006.10:g.43663025C>T	NCBI36
NG_009252.1:g.16170C>T , LRG_470:g.16170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.311C>T (POLH) MANE Select	ENSP00000361310.4:p.Ser104Phe
ENST00000372226.1:c.311C>T (POLH)	ENSP00000361300.1:p.Ser104Phe
ENST00000372236.8:c.311C>T (POLH)	ENSP00000361310.4:p.Ser104Phe
ENST00000443535.1:c.125C>T (POLH)	ENSP00000405320.1:p.Ser42Phe
NM_001291969.1:c.118+4169C>T (POLH)	NP_001278898.1:n.118+4169C>T
NM_001291970.1:c.311C>T (POLH)	NP_001278899.1:p.Ser104Phe
NM_006502.2:c.311C>T , LRG_470t1:c.311C>T (POLH)	NP_006493.1:p.Ser104Phe
XM_005249186.2:c.125C>T (POLH)	XP_005249243.1:p.Ser42Phe
XM_011514698.1:c.118+4169C>T (POLH)	XP_011513000.1:n.118+4169C>T
XM_005249186.4:c.125C>T (POLH)	XP_005249243.1:p.Ser42Phe
XM_011514698.3:c.118+4169C>T (POLH)	XP_011513000.1:n.118+4169C>T
XM_024446466.1:c.59C>T (POLH)	XP_024302234.1:p.Ser20Phe
XM_024446467.1:c.-309C>T (POLH)	XP_024302235.1:n.-309C>T
NM_001291969.2:c.118+4169C>T (POLH)	NP_001278898.1:n.118+4169C>T
NM_001291970.2:c.311C>T (POLH)	NP_001278899.1:p.Ser104Phe
NM_006502.3:c.311C>T (POLH) MANE Select	NP_006493.1:p.Ser104Phe
NM_001318876.2:c.945+58039C>T (POLR1C)	NP_001305805.1:n.945+58039C>T