Canonical Allele Identifier: CA412610472

Gene: POLA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.24704469G>C , CM000685.2:g.24704469G>C	GRCh38
NC_000023.10:g.24722586G>C , CM000685.1:g.24722586G>C	GRCh37
NC_000023.9:g.24632507G>C	NCBI36
NG_016798.1:g.15523G>C
NG_016798.2:g.15523G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001330360.2:c.346G>C MANE Select	NP_001317289.1:p.Gly116Arg
ENST00000379068.8:c.346G>C MANE Select	ENSP00000368358.3:p.Gly116Arg
NM_001330360.1:c.346G>C	NP_001317289.1:p.Gly116Arg
NM_001378303.1:c.346G>C	NP_001365232.1:p.Gly116Arg
NM_016937.3:c.328G>C	NP_058633.2:p.Gly110Arg
NM_016937.4:c.328G>C	NP_058633.2:p.Gly110Arg
NR_165482.1:n.293G>C
NR_165483.1:n.390G>C
ENST00000379059.7:c.328G>C	ENSP00000368349.3:p.Gly110Arg
ENST00000379068.7:c.346G>C	ENSP00000368358.3:p.Gly116Arg
ENST00000611764.1:c.328G>C	ENSP00000478401.1:p.Gly110Arg
ENST00000672178.1:c.249G>C	ENSP00000500742.1:p.Lys83Asn
ENST00000677890.1:c.346G>C	ENSP00000503099.1:p.Gly116Arg
ENST00000678847.1:n.435G>C
XM_005274552.2:c.346G>C	XP_005274609.1:p.Gly116Arg
XM_006724499.1:c.-81G>C	XP_006724562.1:n.-81G>C
XM_006724499.2:c.-81G>C	XP_006724562.1:n.-81G>C
XM_011545540.1:c.346G>C	XP_011543842.1:p.Gly116Arg
XM_011545540.3:c.346G>C	XP_011543842.1:p.Gly116Arg
XM_011545541.1:c.346G>C	XP_011543843.1:p.Gly116Arg
XM_011545541.2:c.346G>C	XP_011543843.1:p.Gly116Arg
XM_017029594.2:c.346G>C	XP_016885083.1:p.Gly116Arg
XM_017029595.2:c.346G>C	XP_016885084.1:p.Gly116Arg
XM_017029596.1:c.346G>C	XP_016885085.1:p.Gly116Arg
XM_024452392.1:c.346G>C	XP_024308160.1:p.Gly116Arg