Canonical Allele Identifier: CA10372938
Community Standard Title: NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn)
Gene: POLA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.24724341G>A , CM000685.2:g.24724341G>A GRCh38
NC_000023.10:g.24742458G>A , CM000685.1:g.24742458G>A GRCh37
NC_000023.9:g.24652379G>A NCBI36
NG_016798.1:g.35395G>A
NG_016798.2:g.35395G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001330360.2:c.1207G>A MANE Select NP_001317289.1:p.Asp403Asn
ENST00000379068.8:c.1207G>A MANE Select ENSP00000368358.3:p.Asp403Asn
NM_001330360.1:c.1207G>A NP_001317289.1:p.Asp403Asn
NM_001378303.1:c.1207G>A NP_001365232.1:p.Asp403Asn
NM_016937.3:c.1189G>A NP_058633.2:p.Asp397Asn
NM_016937.4:c.1189G>A NP_058633.2:p.Asp397Asn
NR_165482.1:n.1154G>A
NR_165483.1:n.1251G>A
ENST00000379059.7:c.1189G>A ENSP00000368349.3:p.Asp397Asn
ENST00000379068.7:c.1207G>A ENSP00000368358.3:p.Asp403Asn
ENST00000611764.1:c.1189G>A ENSP00000478401.1:p.Asp397Asn
ENST00000672178.1:c.*819G>A ENSP00000500742.1:n.*819G>A
ENST00000677890.1:c.1207G>A ENSP00000503099.1:p.Asp403Asn
ENST00000678847.1:n.1296G>A
XM_005274552.2:c.1207G>A XP_005274609.1:p.Asp403Asn
XM_006724499.1:c.781G>A XP_006724562.1:p.Asp261Asn
XM_006724499.2:c.781G>A XP_006724562.1:p.Asp261Asn
XM_011545540.1:c.1207G>A XP_011543842.1:p.Asp403Asn
XM_011545540.3:c.1207G>A XP_011543842.1:p.Asp403Asn
XM_011545541.1:c.1207G>A XP_011543843.1:p.Asp403Asn
XM_011545541.2:c.1207G>A XP_011543843.1:p.Asp403Asn
XM_017029594.2:c.1207G>A XP_016885083.1:p.Asp403Asn
XM_017029595.2:c.1207G>A XP_016885084.1:p.Asp403Asn
XM_017029596.1:c.1207G>A XP_016885085.1:p.Asp403Asn
XM_024452392.1:c.1207G>A XP_024308160.1:p.Asp403Asn