Canonical Allele Identifier: CA364276195

Gene: POLH POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.43555076A>T (hg19) ; chr6:g.43587339A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587339A>T , CM000668.2:g.43587339A>T	GRCh38
NC_000006.11:g.43555076A>T , CM000668.1:g.43555076A>T	GRCh37
NC_000006.10:g.43663054A>T	NCBI36
NG_009252.1:g.16199A>T , LRG_470:g.16199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.340A>T (POLH) MANE Select	ENSP00000361310.4:p.Ile114Phe
ENST00000372226.1:c.340A>T (POLH)	ENSP00000361300.1:p.Ile114Phe
ENST00000372236.8:c.340A>T (POLH)	ENSP00000361310.4:p.Ile114Phe
ENST00000443535.1:c.154A>T (POLH)	ENSP00000405320.1:p.Ile52Phe
NM_001291969.1:c.118+4198A>T (POLH)	NP_001278898.1:n.118+4198A>T
NM_001291970.1:c.340A>T (POLH)	NP_001278899.1:p.Ile114Phe
NM_006502.2:c.340A>T , LRG_470t1:c.340A>T (POLH)	NP_006493.1:p.Ile114Phe
XM_005249186.2:c.154A>T (POLH)	XP_005249243.1:p.Ile52Phe
XM_011514698.1:c.118+4198A>T (POLH)	XP_011513000.1:n.118+4198A>T
XM_005249186.4:c.154A>T (POLH)	XP_005249243.1:p.Ile52Phe
XM_011514698.3:c.118+4198A>T (POLH)	XP_011513000.1:n.118+4198A>T
XM_024446466.1:c.88A>T (POLH)	XP_024302234.1:p.Ile30Phe
XM_024446467.1:c.-280A>T (POLH)	XP_024302235.1:n.-280A>T
NM_001291969.2:c.118+4198A>T (POLH)	NP_001278898.1:n.118+4198A>T
NM_001291970.2:c.340A>T (POLH)	NP_001278899.1:p.Ile114Phe
NM_006502.3:c.340A>T (POLH) MANE Select	NP_006493.1:p.Ile114Phe
NM_001318876.2:c.945+58068A>T (POLR1C)	NP_001305805.1:n.945+58068A>T