Canonical Allele Identifier: CA3827348

Gene: POLH GTPBP2 POLR1C

Linked Data

• ClinVar Variation Id: 356915
• ClinVar RCV Id: RCV000299804 ; RCV000911755 ; RCV002258882 ; RCV003912527
• dbSNP Id: rs151095678
• ExAC: 6:43582176 C / A
• gnomAD v2: 6-43582176-C-A
• gnomAD v3: 6-43614439-C-A
• gnomAD v4: 6-43614439-C-A
• COSMIC: COSM3697880
• MyVariant Identifiers: chr6:g.43582176C>A (hg19) ; chr6:g.43614439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43614439C>A , CM000668.2:g.43614439C>A	GRCh38
NC_000006.11:g.43582176C>A , CM000668.1:g.43582176C>A	GRCh37
NC_000006.10:g.43690154C>A	NCBI36
NG_009252.1:g.43299C>A , LRG_470:g.43299C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.2024C>A (POLH) MANE Select	ENSP00000361310.4:p.Ser675Tyr
ENST00000372226.1:c.*708C>A (POLH)	ENSP00000361300.1:n.*708C>A
ENST00000372236.8:c.2024C>A (POLH)	ENSP00000361310.4:p.Ser675Tyr
ENST00000496137.5:c.449+5680G>T (GTPBP2)	ENSP00000436973.1:n.449+5680G>T
NM_001291969.1:c.1652C>A (POLH)	NP_001278898.1:p.Ser551Tyr
NM_001291970.1:c.*708C>A (POLH)	NP_001278899.1:n.*708C>A
NM_006502.2:c.2024C>A , LRG_470t1:c.2024C>A (POLH)	NP_006493.1:p.Ser675Tyr
XM_005249186.2:c.1838C>A (POLH)	XP_005249243.1:p.Ser613Tyr
XM_011514698.1:c.1652C>A (POLH)	XP_011513000.1:p.Ser551Tyr
XM_005249186.4:c.1838C>A (POLH)	XP_005249243.1:p.Ser613Tyr
XM_011514698.3:c.1652C>A (POLH)	XP_011513000.1:p.Ser551Tyr
XM_024446466.1:c.1772C>A (POLH)	XP_024302234.1:p.Ser591Tyr
XM_024446467.1:c.1568C>A (POLH)	XP_024302235.1:p.Ser523Tyr
NM_001291969.2:c.1652C>A (POLH)	NP_001278898.1:p.Ser551Tyr
NM_001291970.2:c.*708C>A (POLH)	NP_001278899.1:n.*708C>A
NM_006502.3:c.2024C>A (POLH) MANE Select	NP_006493.1:p.Ser675Tyr
NM_001318876.2:c.945+85168C>A (POLR1C)	NP_001305805.1:n.945+85168C>A