Canonical Allele Identifier: CA13330718
Gene: SVIL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.29719734T>C , CM000672.2:g.29719734T>C GRCh38
NC_000010.10:g.30008663T>C , CM000672.1:g.30008663T>C GRCh37
NC_000010.9:g.30048669T>C NCBI36
NG_033998.1:g.21068A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000674475.1:c.-400+16951A>G ENSP00000501521.1:n.-400+16951A>G
ENST00000674490.1:c.-400+16021A>G ENSP00000501398.1:n.-400+16021A>G
ENST00000375400.7:c.-400+16017A>G ENSP00000364549.3:n.-400+16017A>G
ENST00000465422.1:n.97+16951A>G
NM_003174.3:c.-400+16017A>G NP_003165.2:n.-400+16017A>G
XM_005252570.2:c.-400+16951A>G XP_005252627.1:n.-400+16951A>G
XM_005252571.2:c.-400+16021A>G XP_005252628.1:n.-400+16021A>G
XM_011519634.1:c.-400+15327A>G XP_011517936.1:n.-400+15327A>G
NM_001323599.1:c.-400+16951A>G NP_001310528.1:n.-400+16951A>G
NM_001323600.1:c.-400+16021A>G NP_001310529.1:n.-400+16021A>G
XM_005252571.4:c.-400+16021A>G XP_005252628.1:n.-400+16021A>G
XM_024448138.1:c.-358+16021A>G XP_024303906.1:n.-358+16021A>G
NM_001323599.2:c.-400+16951A>G NP_001310528.1:n.-400+16951A>G