Canonical Allele Identifier: CA13428902
Gene: POU2AF3 HGNC NCBI
COLCA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111300984C>A , CM000673.2:g.111300984C>A GRCh38
NC_000011.9:g.111171709C>A , CM000673.1:g.111171709C>A GRCh37
NC_000011.8:g.110676919C>A NCBI36
NG_027686.2:g.9065G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610738.6:c.102+363C>A (POU2AF3) MANE Select ENSP00000484135.1:n.102+363C>A
ENST00000610738.5:c.102+363C>A (POU2AF3) ENSP00000484135.1:n.102+363C>A
ENST00000638573.1:c.207+363C>A (POU2AF3) ENSP00000492570.1:n.207+363C>A
ENST00000639470.1:c.334+363C>A (POU2AF3) ENSP00000492182.1:n.334+363C>A
ENST00000398035.6:c.-190+363C>A (POU2AF3) ENSP00000381115.2:n.-190+363C>A
ENST00000526216.1:c.-190+363C>A (POU2AF3) ENSP00000434519.1:n.-190+363C>A
ENST00000528846.5:c.-190+363C>A (POU2AF3) ENSP00000434938.1:n.-190+363C>A
ENST00000610738.4:c.102+363C>A (POU2AF3) ENSP00000484135.1:n.102+363C>A
ENST00000614153.4:c.-190+363C>A (POU2AF3) ENSP00000481028.2:n.-190+363C>A
NM_001136105.2:c.-190+363C>A (POU2AF3) NP_001129577.1:n.-190+363C>A
NM_001271457.1:c.-190+363C>A (POU2AF3) NP_001258386.1:n.-190+363C>A
NM_001271458.1:c.102+363C>A (POU2AF3) NP_001258387.1:n.102+363C>A
NM_001302644.1:c.-2188-2318G>T (COLCA1) NP_001289573.1:n.-2188-2318G>T
XM_011542589.1:c.486+363C>A (POU2AF3) XP_011540891.1:n.486+363C>A
XM_017017196.2:c.102+363C>A (POU2AF3) XP_016872685.1:n.102+363C>A
XM_017017198.1:c.-190+363C>A (POU2AF3) XP_016872687.1:n.-190+363C>A
XM_017017199.1:c.-190+363C>A (POU2AF3) XP_016872688.1:n.-190+363C>A
XM_017017200.1:c.-280+363C>A (POU2AF3) XP_016872689.1:n.-280+363C>A
NM_001370484.1:c.-190+363C>A (POU2AF3) NP_001357413.1:n.-190+363C>A
NM_001136105.3:c.-190+363C>A (POU2AF3) NP_001129577.1:n.-190+363C>A
NM_001271457.2:c.-190+363C>A (POU2AF3) NP_001258386.1:n.-190+363C>A
NM_001271458.2:c.102+363C>A (POU2AF3) MANE Select NP_001258387.1:n.102+363C>A
NR_169237.1:n.222-2318G>T (COLCA1)
Search 100 bp 5'
Search 100 bp 3'