Canonical Allele Identifier: CA412610249

Gene: POLA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.24703336T>G , CM000685.2:g.24703336T>G	GRCh38
NC_000023.10:g.24721453T>G , CM000685.1:g.24721453T>G	GRCh37
NC_000023.9:g.24631374T>G	NCBI36
NG_016798.1:g.14390T>G
NG_016798.2:g.14390T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001330360.2:c.254T>G MANE Select	NP_001317289.1:p.Ile85Ser
ENST00000379068.8:c.254T>G MANE Select	ENSP00000368358.3:p.Ile85Ser
NM_001330360.1:c.254T>G	NP_001317289.1:p.Ile85Ser
NM_001378303.1:c.254T>G	NP_001365232.1:p.Ile85Ser
NM_016937.3:c.236T>G	NP_058633.2:p.Ile79Ser
NM_016937.4:c.236T>G	NP_058633.2:p.Ile79Ser
NR_165482.1:n.213-1053T>G
NR_165483.1:n.298T>G
ENST00000379059.7:c.236T>G	ENSP00000368349.3:p.Ile79Ser
ENST00000379068.7:c.254T>G	ENSP00000368358.3:p.Ile85Ser
ENST00000611764.1:c.236T>G	ENSP00000478401.1:p.Ile79Ser
ENST00000672178.1:c.169-1053T>G	ENSP00000500742.1:n.169-1053T>G
ENST00000677890.1:c.254T>G	ENSP00000503099.1:p.Ile85Ser
ENST00000678847.1:n.343T>G
XM_005274552.2:c.254T>G	XP_005274609.1:p.Ile85Ser
XM_006724499.1:c.-161-1053T>G	XP_006724562.1:n.-161-1053T>G
XM_006724499.2:c.-161-1053T>G	XP_006724562.1:n.-161-1053T>G
XM_011545540.1:c.254T>G	XP_011543842.1:p.Ile85Ser
XM_011545540.3:c.254T>G	XP_011543842.1:p.Ile85Ser
XM_011545541.1:c.254T>G	XP_011543843.1:p.Ile85Ser
XM_011545541.2:c.254T>G	XP_011543843.1:p.Ile85Ser
XM_017029594.2:c.254T>G	XP_016885083.1:p.Ile85Ser
XM_017029595.2:c.254T>G	XP_016885084.1:p.Ile85Ser
XM_017029596.1:c.254T>G	XP_016885085.1:p.Ile85Ser
XM_024452392.1:c.254T>G	XP_024308160.1:p.Ile85Ser