Canonical Allele Identifier: CA2580654535
Community Standard Title: NM_001100420.2(C21orf91):c.727+46A>C
Gene: C21orf91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.17795162T>G , CM000683.2:g.17795162T>G GRCh38
NC_000021.8:g.19167479T>G , CM000683.1:g.19167479T>G GRCh37
NC_000021.7:g.18089350T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001100420.2:c.727+46A>C MANE Select NP_001093890.1:n.727+46A>C
ENST00000284881.9:c.727+46A>C MANE Select ENSP00000284881.4:n.727+46A>C
NM_001100420.1:c.727+46A>C NP_001093890.1:n.727+46A>C
NM_001100421.1:c.664+1420A>C NP_001093891.1:n.664+1420A>C
NM_001100421.2:c.664+1420A>C NP_001093891.1:n.664+1420A>C
NM_017447.3:c.727+46A>C NP_059143.3:n.727+46A>C
NM_017447.4:c.727+46A>C NP_059143.3:n.727+46A>C
ENST00000284881.8:c.727+46A>C ENSP00000284881.4:n.727+46A>C
ENST00000400558.7:c.664+1420A>C ENSP00000383403.3:n.664+1420A>C
ENST00000400559.7:c.727+46A>C ENSP00000383404.3:n.727+46A>C