Canonical Allele Identifier: CA394264232
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

dbSNP Id: rs1897210228

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1791006G>A , CM000678.2:g.1791006G>A GRCh38
NC_000016.9:g.1841007G>A , CM000678.1:g.1841007G>A GRCh37
NC_000016.8:g.1781008G>A NCBI36
NG_011778.1:g.7728C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1412C>T (IGFALS) MANE Select ENSP00000215539.3:p.Ala471Val
ENST00000215539.3:c.1412C>T (IGFALS) ENSP00000215539.3:p.Ala471Val
ENST00000415638.3:c.1526C>T (IGFALS) ENSP00000416683.3:p.Ala509Val
ENST00000569769.1:c.-13+2631C>T (SPSB3) ENSP00000455098.1:n.-13+2631C>T
NM_001146006.1:c.1526C>T (IGFALS) NP_001139478.1:p.Ala509Val
NM_004970.2:c.1412C>T (IGFALS) NP_004961.1:p.Ala471Val
NR_027389.1:n.1466C>T (IGFALS)
XM_011522476.1:c.1493C>T (IGFALS) XP_011520778.1:p.Ala498Val
NM_001146006.2:c.1526C>T (IGFALS) NP_001139478.1:p.Ala509Val
NM_004970.3:c.1412C>T (IGFALS) MANE Select NP_004961.1:p.Ala471Val