Canonical Allele Identifier: CA364276450

Gene: POLH POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.43555125A>T (hg19) ; chr6:g.43587388A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587388A>T , CM000668.2:g.43587388A>T	GRCh38
NC_000006.11:g.43555125A>T , CM000668.1:g.43555125A>T	GRCh37
NC_000006.10:g.43663103A>T	NCBI36
NG_009252.1:g.16248A>T , LRG_470:g.16248A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.389A>T (POLH) MANE Select	ENSP00000361310.4:p.Gln130Leu
ENST00000372226.1:c.389A>T (POLH)	ENSP00000361300.1:p.Gln130Leu
ENST00000372236.8:c.389A>T (POLH)	ENSP00000361310.4:p.Gln130Leu
ENST00000443535.1:c.203A>T (POLH)	ENSP00000405320.1:p.Gln68Leu
NM_001291969.1:c.118+4247A>T (POLH)	NP_001278898.1:n.118+4247A>T
NM_001291970.1:c.389A>T (POLH)	NP_001278899.1:p.Gln130Leu
NM_006502.2:c.389A>T , LRG_470t1:c.389A>T (POLH)	NP_006493.1:p.Gln130Leu
XM_005249186.2:c.203A>T (POLH)	XP_005249243.1:p.Gln68Leu
XM_011514698.1:c.118+4247A>T (POLH)	XP_011513000.1:n.118+4247A>T
XM_005249186.4:c.203A>T (POLH)	XP_005249243.1:p.Gln68Leu
XM_011514698.3:c.118+4247A>T (POLH)	XP_011513000.1:n.118+4247A>T
XM_024446466.1:c.137A>T (POLH)	XP_024302234.1:p.Gln46Leu
XM_024446467.1:c.-231A>T (POLH)	XP_024302235.1:n.-231A>T
NM_001291969.2:c.118+4247A>T (POLH)	NP_001278898.1:n.118+4247A>T
NM_001291970.2:c.389A>T (POLH)	NP_001278899.1:p.Gln130Leu
NM_006502.3:c.389A>T (POLH) MANE Select	NP_006493.1:p.Gln130Leu
NM_001318876.2:c.945+58117A>T (POLR1C)	NP_001305805.1:n.945+58117A>T