Canonical Allele Identifier: CA2067718822
Gene: OASL HGNC NCBI

Linked Data

dbSNP Id: rs1869306984

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121022933C>G , CM000674.2:g.121022933C>G GRCh38
NC_000012.11:g.121460736C>G , CM000674.1:g.121460736C>G GRCh37
NC_000012.10:g.119945119C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257570.10:c.1047+1057G>C MANE Select ENSP00000257570.4:n.1047+1057G>C
ENST00000339275.10:c.*37+1057G>C ENSP00000341125.5:n.*37+1057G>C
ENST00000620239.5:c.658-1875G>C ENSP00000479512.1:n.658-1875G>C
ENST00000679655.1:c.1047+1057G>C ENSP00000506490.1:n.1047+1057G>C
ENST00000680485.1:c.*279+1057G>C ENSP00000506721.1:n.*279+1057G>C
ENST00000680620.1:c.1047+1057G>C ENSP00000505685.1:n.1047+1057G>C
ENST00000680750.1:n.1591+1057G>C
ENST00000681005.1:n.653+1057G>C
ENST00000681590.1:c.*521+1057G>C ENSP00000506074.1:n.*521+1057G>C
ENST00000257570.9:c.1047+1057G>C ENSP00000257570.4:n.1047+1057G>C
ENST00000339275.9:c.*37+1057G>C ENSP00000341125.5:n.*37+1057G>C
ENST00000620239.4:c.658-1875G>C ENSP00000479512.1:n.658-1875G>C
NM_001261825.1:c.658-1875G>C NP_001248754.1:n.658-1875G>C
NM_003733.3:c.1047+1057G>C NP_003724.1:n.1047+1057G>C
NM_198213.2:c.*37+1057G>C NP_937856.1:n.*37+1057G>C
XM_017020140.1:c.1047+1057G>C XP_016875629.1:n.1047+1057G>C
XM_017020141.1:c.*37+1057G>C XP_016875630.1:n.*37+1057G>C
NM_001261825.2:c.658-1875G>C NP_001248754.1:n.658-1875G>C
NM_001395418.1:c.*37+1057G>C NP_001382347.1:n.*37+1057G>C
NM_001395419.1:c.1047+1057G>C NP_001382348.1:n.1047+1057G>C
NM_003733.4:c.1047+1057G>C MANE Select NP_003724.1:n.1047+1057G>C
NM_198213.3:c.*37+1057G>C NP_937856.1:n.*37+1057G>C