Canonical Allele Identifier: CA394263898
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790876C>G , CM000678.2:g.1790876C>G GRCh38
NC_000016.9:g.1840877C>G , CM000678.1:g.1840877C>G GRCh37
NC_000016.8:g.1780878C>G NCBI36
NG_011778.1:g.7858G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1542G>C (IGFALS) MANE Select ENSP00000215539.3:p.Arg514Ser
ENST00000215539.3:c.1542G>C (IGFALS) ENSP00000215539.3:p.Arg514Ser
ENST00000415638.3:c.1656G>C (IGFALS) ENSP00000416683.3:p.Arg552Ser
ENST00000569769.1:c.-13+2761G>C (SPSB3) ENSP00000455098.1:n.-13+2761G>C
NM_001146006.1:c.1656G>C (IGFALS) NP_001139478.1:p.Arg552Ser
NM_004970.2:c.1542G>C (IGFALS) NP_004961.1:p.Arg514Ser
NR_027389.1:n.1596G>C (IGFALS)
XM_011522476.1:c.1623G>C (IGFALS) XP_011520778.1:p.Arg541Ser
NM_001146006.2:c.1656G>C (IGFALS) NP_001139478.1:p.Arg552Ser
NM_004970.3:c.1542G>C (IGFALS) MANE Select NP_004961.1:p.Arg514Ser