Canonical Allele Identifier: CA10622149

Gene: POLH POLR1C

Linked Data

• ClinVar Variation Id: 356897
• ClinVar RCV Id: RCV000267901 ; RCV000998608 ; RCV002257655
• dbSNP Id: rs9357415
• gnomAD v2: 6-43544180-A-G
• gnomAD v3: 6-43576443-A-G
• gnomAD v4: 6-43576443-A-G
• MyVariant Identifiers: chr6:g.43544180A>G (hg19) ; chr6:g.43576443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43576443A>G , CM000668.2:g.43576443A>G	GRCh38
NC_000006.11:g.43544180A>G , CM000668.1:g.43544180A>G	GRCh37
NC_000006.10:g.43652158A>G	NCBI36
NG_009252.1:g.5303A>G , LRG_470:g.5303A>G
NG_051658.1:g.4633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.-5+3A>G (POLH) MANE Select	ENSP00000361310.4:n.-5+3A>G
ENST00000372226.1:c.-5+3A>G (POLH)	ENSP00000361300.1:n.-5+3A>G
ENST00000372236.8:c.-5+3A>G (POLH)	ENSP00000361310.4:n.-5+3A>G
ENST00000443535.1:c.-50+3A>G (POLH)	ENSP00000405320.1:n.-50+3A>G
NM_001291969.1:c.-18+3A>G (POLH)	NP_001278898.1:n.-18+3A>G
NM_001291970.1:c.-5+3A>G (POLH)	NP_001278899.1:n.-5+3A>G
NM_006502.2:c.-5+3A>G , LRG_470t1:c.-5+3A>G (POLH)	NP_006493.1:n.-5+3A>G
XM_005249186.2:c.-50+3A>G (POLH)	XP_005249243.1:n.-50+3A>G
XM_011514698.1:c.-159+3A>G (POLH)	XP_011513000.1:n.-159+3A>G
XM_005249186.4:c.-50+3A>G (POLH)	XP_005249243.1:n.-50+3A>G
XM_011514698.3:c.-159+3A>G (POLH)	XP_011513000.1:n.-159+3A>G
XM_024446466.1:c.-3008+3A>G (POLH)	XP_024302234.1:n.-3008+3A>G
XM_024446467.1:c.-624+3A>G (POLH)	XP_024302235.1:n.-624+3A>G
NM_001291969.2:c.-18+3A>G (POLH)	NP_001278898.1:n.-18+3A>G
NM_001291970.2:c.-5+3A>G (POLH)	NP_001278899.1:n.-5+3A>G
NM_006502.3:c.-5+3A>G (POLH) MANE Select	NP_006493.1:n.-5+3A>G
NM_001318876.2:c.945+47172A>G (POLR1C)	NP_001305805.1:n.945+47172A>G