Canonical Allele Identifier: CA412527407
Community Standard Title: NM_001330360.2(POLA1):c.463-2A>T
Gene: POLA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.24715139A>T , CM000685.2:g.24715139A>T GRCh38
NC_000023.10:g.24733256A>T , CM000685.1:g.24733256A>T GRCh37
NC_000023.9:g.24643177A>T NCBI36
NG_016798.1:g.26193A>T
NG_016798.2:g.26193A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001330360.2:c.463-2A>T MANE Select NP_001317289.1:n.463-2A>T
ENST00000379068.8:c.463-2A>T MANE Select ENSP00000368358.3:n.463-2A>T
NM_001330360.1:c.463-2A>T NP_001317289.1:n.463-2A>T
NM_001378303.1:c.463-2A>T NP_001365232.1:n.463-2A>T
NM_016937.3:c.445-2A>T NP_058633.2:n.445-2A>T
NM_016937.4:c.445-2A>T NP_058633.2:n.445-2A>T
NR_165482.1:n.410-2A>T
NR_165483.1:n.507-2A>T
ENST00000379059.7:c.445-2A>T ENSP00000368349.3:n.445-2A>T
ENST00000379068.7:c.463-2A>T ENSP00000368358.3:n.463-2A>T
ENST00000611764.1:c.445-2A>T ENSP00000478401.1:n.445-2A>T
ENST00000672178.1:c.*75-2A>T ENSP00000500742.1:n.*75-2A>T
ENST00000676703.1:n.354-2A>T
ENST00000677890.1:c.463-2A>T ENSP00000503099.1:n.463-2A>T
ENST00000678847.1:n.552-2A>T
XM_005274552.2:c.463-2A>T XP_005274609.1:n.463-2A>T
XM_006724499.1:c.37-2A>T XP_006724562.1:n.37-2A>T
XM_006724499.2:c.37-2A>T XP_006724562.1:n.37-2A>T
XM_011545540.1:c.463-2A>T XP_011543842.1:n.463-2A>T
XM_011545540.3:c.463-2A>T XP_011543842.1:n.463-2A>T
XM_011545541.1:c.463-2A>T XP_011543843.1:n.463-2A>T
XM_011545541.2:c.463-2A>T XP_011543843.1:n.463-2A>T
XM_017029594.2:c.463-2A>T XP_016885083.1:n.463-2A>T
XM_017029595.2:c.463-2A>T XP_016885084.1:n.463-2A>T
XM_017029596.1:c.463-2A>T XP_016885085.1:n.463-2A>T
XM_024452392.1:c.463-2A>T XP_024308160.1:n.463-2A>T