Canonical Allele Identifier: CA2000210042

Gene: POU2AF3 COLCA1

Linked Data

• dbSNP Id: rs10891246
• gnomAD v4: 11-111299815-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111299815A>T , CM000673.2:g.111299815A>T	GRCh38
NC_000011.9:g.111170540A>T , CM000673.1:g.111170540A>T	GRCh37
NC_000011.8:g.110675750A>T	NCBI36
NG_027686.2:g.10234T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000610738.6:c.8-712A>T (POU2AF3) MANE Select	ENSP00000484135.1:n.8-712A>T
ENST00000610738.5:c.8-712A>T (POU2AF3)	ENSP00000484135.1:n.8-712A>T
ENST00000638573.1:c.37A>T (POU2AF3)	ENSP00000492570.1:p.Thr13Ser
ENST00000639470.1:c.37A>T (POU2AF3)	ENSP00000492182.1:p.Thr13Ser
ENST00000398035.6:c.-285+91A>T (POU2AF3)	ENSP00000381115.2:n.-285+91A>T
ENST00000526216.1:c.-487A>T (POU2AF3)	ENSP00000434519.1:n.-487A>T
ENST00000528846.5:c.-284-712A>T (POU2AF3)	ENSP00000434938.1:n.-284-712A>T
ENST00000610738.4:c.8-712A>T (POU2AF3)	ENSP00000484135.1:n.8-712A>T
ENST00000614153.4:c.-284-712A>T (POU2AF3)	ENSP00000481028.2:n.-284-712A>T
NM_001136105.2:c.-285+91A>T (POU2AF3)	NP_001129577.1:n.-285+91A>T
NM_001271457.1:c.-284-712A>T (POU2AF3)	NP_001258386.1:n.-284-712A>T
NM_001271458.1:c.8-712A>T (POU2AF3)	NP_001258387.1:n.8-712A>T
NM_001302644.1:c.-2188-1149T>A (COLCA1)	NP_001289573.1:n.-2188-1149T>A
NM_001302645.1:c.-2189+330T>A (COLCA1)	NP_001289574.1:n.-2189+330T>A
NM_001302647.1:c.-2189+93T>A (COLCA1)	NP_001289576.1:n.-2189+93T>A
NM_001302648.1:c.-2189+128T>A (COLCA1)	NP_001289577.1:n.-2189+128T>A
NM_207429.3:c.-2410T>A (COLCA1)	NP_997312.1:n.-2410T>A
XM_011542589.1:c.392-712A>T (POU2AF3)	XP_011540891.1:n.392-712A>T
XM_017017196.2:c.8-712A>T (POU2AF3)	XP_016872685.1:n.8-712A>T
XM_017017199.1:c.-285+472A>T (POU2AF3)	XP_016872688.1:n.-285+472A>T
NM_001370484.1:c.-487A>T (POU2AF3)	NP_001357413.1:n.-487A>T
NM_001136105.3:c.-285+91A>T (POU2AF3)	NP_001129577.1:n.-285+91A>T
NM_001271457.2:c.-284-712A>T (POU2AF3)	NP_001258386.1:n.-284-712A>T
NM_001271458.2:c.8-712A>T (POU2AF3) MANE Select	NP_001258387.1:n.8-712A>T
NR_169237.1:n.222-1149T>A (COLCA1)
NR_169241.1:n.88+330T>A (COLCA1)
NR_169244.1:n.129+93T>A (COLCA1)
NR_169245.1:n.94+128T>A (COLCA1)