Canonical Allele Identifier: CA3826948

Gene: POLH POLR1C

Linked Data

• dbSNP Id: rs750026446
• ExAC: 6:43555032 T / C
• gnomAD v2: 6-43555032-T-C
• gnomAD v3: 6-43587295-T-C
• gnomAD v4: 6-43587295-T-C
• MyVariant Identifiers: chr6:g.43555032T>C (hg19) ; chr6:g.43587295T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587295T>C , CM000668.2:g.43587295T>C	GRCh38
NC_000006.11:g.43555032T>C , CM000668.1:g.43555032T>C	GRCh37
NC_000006.10:g.43663010T>C	NCBI36
NG_009252.1:g.16155T>C , LRG_470:g.16155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.296T>C (POLH) MANE Select	ENSP00000361310.4:p.Val99Ala
ENST00000372226.1:c.296T>C (POLH)	ENSP00000361300.1:p.Val99Ala
ENST00000372236.8:c.296T>C (POLH)	ENSP00000361310.4:p.Val99Ala
ENST00000443535.1:c.110T>C (POLH)	ENSP00000405320.1:p.Val37Ala
NM_001291969.1:c.118+4154T>C (POLH)	NP_001278898.1:n.118+4154T>C
NM_001291970.1:c.296T>C (POLH)	NP_001278899.1:p.Val99Ala
NM_006502.2:c.296T>C , LRG_470t1:c.296T>C (POLH)	NP_006493.1:p.Val99Ala
XM_005249186.2:c.110T>C (POLH)	XP_005249243.1:p.Val37Ala
XM_011514698.1:c.118+4154T>C (POLH)	XP_011513000.1:n.118+4154T>C
XM_005249186.4:c.110T>C (POLH)	XP_005249243.1:p.Val37Ala
XM_011514698.3:c.118+4154T>C (POLH)	XP_011513000.1:n.118+4154T>C
XM_024446466.1:c.44T>C (POLH)	XP_024302234.1:p.Val15Ala
XM_024446467.1:c.-324T>C (POLH)	XP_024302235.1:n.-324T>C
NM_001291969.2:c.118+4154T>C (POLH)	NP_001278898.1:n.118+4154T>C
NM_001291970.2:c.296T>C (POLH)	NP_001278899.1:p.Val99Ala
NM_006502.3:c.296T>C (POLH) MANE Select	NP_006493.1:p.Val99Ala
NM_001318876.2:c.945+58024T>C (POLR1C)	NP_001305805.1:n.945+58024T>C