Canonical Allele Identifier: CA138317791

Gene: POLH POLR1C

Linked Data

• dbSNP Id: rs138298839
• gnomAD v2: 6-43555091-G-T
• MyVariant Identifiers: chr6:g.43555091G>T (hg19) ; chr6:g.43587354G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587354G>T , CM000668.2:g.43587354G>T	GRCh38
NC_000006.11:g.43555091G>T , CM000668.1:g.43555091G>T	GRCh37
NC_000006.10:g.43663069G>T	NCBI36
NG_009252.1:g.16214G>T , LRG_470:g.16214G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.355G>T (POLH) MANE Select	ENSP00000361310.4:p.Val119Leu
ENST00000372226.1:c.355G>T (POLH)	ENSP00000361300.1:p.Val119Leu
ENST00000372236.8:c.355G>T (POLH)	ENSP00000361310.4:p.Val119Leu
ENST00000443535.1:c.169G>T (POLH)	ENSP00000405320.1:p.Val57Leu
NM_001291969.1:c.118+4213G>T (POLH)	NP_001278898.1:n.118+4213G>T
NM_001291970.1:c.355G>T (POLH)	NP_001278899.1:p.Val119Leu
NM_006502.2:c.355G>T , LRG_470t1:c.355G>T (POLH)	NP_006493.1:p.Val119Leu
XM_005249186.2:c.169G>T (POLH)	XP_005249243.1:p.Val57Leu
XM_011514698.1:c.118+4213G>T (POLH)	XP_011513000.1:n.118+4213G>T
XM_005249186.4:c.169G>T (POLH)	XP_005249243.1:p.Val57Leu
XM_011514698.3:c.118+4213G>T (POLH)	XP_011513000.1:n.118+4213G>T
XM_024446466.1:c.103G>T (POLH)	XP_024302234.1:p.Val35Leu
XM_024446467.1:c.-265G>T (POLH)	XP_024302235.1:n.-265G>T
NM_001291969.2:c.118+4213G>T (POLH)	NP_001278898.1:n.118+4213G>T
NM_001291970.2:c.355G>T (POLH)	NP_001278899.1:p.Val119Leu
NM_006502.3:c.355G>T (POLH) MANE Select	NP_006493.1:p.Val119Leu
NM_001318876.2:c.945+58083G>T (POLR1C)	NP_001305805.1:n.945+58083G>T