Canonical Allele Identifier: CA364261591

Gene: POLH GTPBP2 POLR1C

Linked Data

• dbSNP Id: rs121908564
• gnomAD v4: 6-43610596-C-A
• MyVariant Identifiers: chr6:g.43578333C>A (hg19) ; chr6:g.43610596C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43610596C>A , CM000668.2:g.43610596C>A	GRCh38
NC_000006.11:g.43578333C>A , CM000668.1:g.43578333C>A	GRCh37
NC_000006.10:g.43686311C>A	NCBI36
NG_009252.1:g.39456C>A , LRG_470:g.39456C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372236.9:c.1117C>A (POLH) MANE Select	ENSP00000361310.4:p.Gln373Lys
ENST00000372226.1:c.1117C>A (POLH)	ENSP00000361300.1:p.Gln373Lys
ENST00000372236.8:c.1117C>A (POLH)	ENSP00000361310.4:p.Gln373Lys
ENST00000496137.5:c.450-5214G>T (GTPBP2)	ENSP00000436973.1:n.450-5214G>T
NM_001291969.1:c.745C>A (POLH)	NP_001278898.1:p.Gln249Lys
NM_001291970.1:c.1117C>A (POLH)	NP_001278899.1:p.Gln373Lys
NM_006502.2:c.1117C>A , LRG_470t1:c.1117C>A (POLH)	NP_006493.1:p.Gln373Lys
XM_005249186.2:c.931C>A (POLH)	XP_005249243.1:p.Gln311Lys
XM_011514698.1:c.745C>A (POLH)	XP_011513000.1:p.Gln249Lys
XM_005249186.4:c.931C>A (POLH)	XP_005249243.1:p.Gln311Lys
XM_011514698.3:c.745C>A (POLH)	XP_011513000.1:p.Gln249Lys
XM_024446466.1:c.865C>A (POLH)	XP_024302234.1:p.Gln289Lys
XM_024446467.1:c.661C>A (POLH)	XP_024302235.1:p.Gln221Lys
NM_001291969.2:c.745C>A (POLH)	NP_001278898.1:p.Gln249Lys
NM_001291970.2:c.1117C>A (POLH)	NP_001278899.1:p.Gln373Lys
NM_006502.3:c.1117C>A (POLH) MANE Select	NP_006493.1:p.Gln373Lys
NM_001318876.2:c.945+81325C>A (POLR1C)	NP_001305805.1:n.945+81325C>A