Canonical Allele Identifier: CA350192726
Gene: SF3B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197400870C>G , CM000664.2:g.197400870C>G GRCh38
NC_000002.11:g.198265594C>G , CM000664.1:g.198265594C>G GRCh37
NC_000002.10:g.197973839C>G NCBI36
NG_032903.2:g.39178G>C , LRG_624:g.39178G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.2563G>C MANE Select ENSP00000335321.6:p.Asp855His
ENST00000470268.2:n.4447G>C
ENST00000652026.1:c.*3630G>C ENSP00000498652.1:n.*3630G>C
ENST00000652738.1:c.*2822G>C ENSP00000499119.1:n.*2822G>C
ENST00000335508.10:c.2563G>C ENSP00000335321.5:p.Asp855His
NM_012433.2:c.2563G>C NP_036565.2:p.Asp855His
NM_012433.3:c.2563G>C , LRG_624t2:c.2563G>C NP_036565.2:p.Asp855His
XM_011510867.1:c.2125G>C XP_011509169.1:p.Asp709His
XM_011510868.1:c.2125G>C XP_011509170.1:p.Asp709His
XR_241300.2:n.2655G>C
XR_001738680.2:n.2608G>C
NM_012433.4:c.2563G>C MANE Select NP_036565.2:p.Asp855His