Canonical Allele Identifier: CA450292935

Linked Data

MyVariant Identifiers: chr6:g.43555108T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43587371T>A , CM000668.2:g.43587371T>A GRCh38
NC_000006.11:g.43555108T>A , CM000668.1:g.43555108T>A GRCh37
NC_000006.10:g.43663086T>A NCBI36
NG_009252.1:g.16231T>A , LRG_470:g.16231T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372236.9:c.372T>A (POLH) MANE Select ENSP00000361310.4:p.Ala124=
ENST00000372226.1:c.372T>A (POLH) ENSP00000361300.1:p.Ala124=
ENST00000372236.8:c.372T>A (POLH) ENSP00000361310.4:p.Ala124=
ENST00000443535.1:c.186T>A (POLH) ENSP00000405320.1:p.Ala62=
NM_001291969.1:c.118+4230T>A (POLH) NP_001278898.1:n.118+4230T>A
NM_001291970.1:c.372T>A (POLH) NP_001278899.1:p.Ala124=
NM_006502.2:c.372T>A , LRG_470t1:c.372T>A (POLH) NP_006493.1:p.Ala124=
XM_005249186.2:c.186T>A (POLH) XP_005249243.1:p.Ala62=
XM_011514698.1:c.118+4230T>A (POLH) XP_011513000.1:n.118+4230T>A
XM_005249186.4:c.186T>A (POLH) XP_005249243.1:p.Ala62=
XM_011514698.3:c.118+4230T>A (POLH) XP_011513000.1:n.118+4230T>A
XM_024446466.1:c.120T>A (POLH) XP_024302234.1:p.Ala40=
XM_024446467.1:c.-248T>A (POLH) XP_024302235.1:n.-248T>A
NM_001291969.2:c.118+4230T>A (POLH) NP_001278898.1:n.118+4230T>A
NM_001291970.2:c.372T>A (POLH) NP_001278899.1:p.Ala124=
NM_006502.3:c.372T>A (POLH) MANE Select NP_006493.1:p.Ala124=
NM_001318876.2:c.945+58100T>A (POLR1C) NP_001305805.1:n.945+58100T>A