Canonical Allele Identifier: CA14322290
Community Standard Title: NM_004220.3(ZNF213):c.-116+349T>C
Gene: ZNF213 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3135736T>C , CM000678.2:g.3135736T>C GRCh38
NC_000016.9:g.3185737T>C , CM000678.1:g.3185737T>C GRCh37
NC_000016.8:g.3125738T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004220.3:c.-116+349T>C MANE Select NP_004211.1:n.-116+349T>C
ENST00000396878.8:c.-116+349T>C MANE Select ENSP00000380087.3:n.-116+349T>C
NM_001134655.1:c.-116+291T>C NP_001128127.1:n.-116+291T>C
NM_001134655.2:c.-116+291T>C NP_001128127.1:n.-116+291T>C
NM_004220.2:c.-116+349T>C NP_004211.1:n.-116+349T>C
NR_104432.1:n.332+349T>C
NR_104432.2:n.359+349T>C
ENST00000396878.7:c.-116+349T>C ENSP00000380087.3:n.-116+349T>C
ENST00000416391.6:c.-116+349T>C ENSP00000403892.3:n.-116+349T>C
ENST00000573771.1:c.-115-1430T>C ENSP00000459967.1:n.-115-1430T>C
ENST00000574902.5:c.-116+349T>C ENSP00000460157.1:n.-116+349T>C
ENST00000574928.5:n.250+349T>C
ENST00000576416.5:c.-116+291T>C ENSP00000459177.1:n.-116+291T>C
ENST00000576863.1:c.-116+349T>C ENSP00000461024.1:n.-116+349T>C
XM_011522652.1:c.-116+349T>C XP_011520954.1:n.-116+349T>C
XM_011522652.3:c.-116+349T>C XP_011520954.1:n.-116+349T>C