Canonical Allele Identifier: CA412527843

Gene: POLA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.24715204G>A , CM000685.2:g.24715204G>A	GRCh38
NC_000023.10:g.24733321G>A , CM000685.1:g.24733321G>A	GRCh37
NC_000023.9:g.24643242G>A	NCBI36
NG_016798.1:g.26258G>A
NG_016798.2:g.26258G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001330360.2:c.525+1G>A MANE Select	NP_001317289.1:n.525+1G>A
ENST00000379068.8:c.525+1G>A MANE Select	ENSP00000368358.3:n.525+1G>A
NM_001330360.1:c.525+1G>A	NP_001317289.1:n.525+1G>A
NM_001378303.1:c.525+1G>A	NP_001365232.1:n.525+1G>A
NM_016937.3:c.507+1G>A	NP_058633.2:n.507+1G>A
NM_016937.4:c.507+1G>A	NP_058633.2:n.507+1G>A
NR_165482.1:n.472+1G>A
NR_165483.1:n.569+1G>A
ENST00000379059.7:c.507+1G>A	ENSP00000368349.3:n.507+1G>A
ENST00000379068.7:c.525+1G>A	ENSP00000368358.3:n.525+1G>A
ENST00000611764.1:c.507+1G>A	ENSP00000478401.1:n.507+1G>A
ENST00000672178.1:c.*137+1G>A	ENSP00000500742.1:n.*137+1G>A
ENST00000676703.1:n.417G>A
ENST00000677890.1:c.525+1G>A	ENSP00000503099.1:n.525+1G>A
ENST00000678847.1:n.614+1G>A
XM_005274552.2:c.525+1G>A	XP_005274609.1:n.525+1G>A
XM_006724499.1:c.99+1G>A	XP_006724562.1:n.99+1G>A
XM_006724499.2:c.99+1G>A	XP_006724562.1:n.99+1G>A
XM_011545540.1:c.525+1G>A	XP_011543842.1:n.525+1G>A
XM_011545540.3:c.525+1G>A	XP_011543842.1:n.525+1G>A
XM_011545541.1:c.525+1G>A	XP_011543843.1:n.525+1G>A
XM_011545541.2:c.525+1G>A	XP_011543843.1:n.525+1G>A
XM_017029594.2:c.525+1G>A	XP_016885083.1:n.525+1G>A
XM_017029595.2:c.525+1G>A	XP_016885084.1:n.525+1G>A
XM_017029596.1:c.525+1G>A	XP_016885085.1:n.525+1G>A
XM_024452392.1:c.525+1G>A	XP_024308160.1:n.525+1G>A