Canonical Allele Identifier: CA394263719
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790818C>G , CM000678.2:g.1790818C>G GRCh38
NC_000016.9:g.1840819C>G , CM000678.1:g.1840819C>G GRCh37
NC_000016.8:g.1780820C>G NCBI36
NG_011778.1:g.7916G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1600G>C (IGFALS) MANE Select ENSP00000215539.3:p.Glu534Gln
ENST00000215539.3:c.1600G>C (IGFALS) ENSP00000215539.3:p.Glu534Gln
ENST00000415638.3:c.1714G>C (IGFALS) ENSP00000416683.3:p.Glu572Gln
ENST00000569769.1:c.-13+2819G>C (SPSB3) ENSP00000455098.1:n.-13+2819G>C
NM_001146006.1:c.1714G>C (IGFALS) NP_001139478.1:p.Glu572Gln
NM_004970.2:c.1600G>C (IGFALS) NP_004961.1:p.Glu534Gln
NR_027389.1:n.1654G>C (IGFALS)
XM_011522476.1:c.1681G>C (IGFALS) XP_011520778.1:p.Glu561Gln
NM_001146006.2:c.1714G>C (IGFALS) NP_001139478.1:p.Glu572Gln
NM_004970.3:c.1600G>C (IGFALS) MANE Select NP_004961.1:p.Glu534Gln