Canonical Allele Identifier: CA394264235
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

dbSNP Id: rs376821550
gnomAD v2: 16-1841008-C-A
gnomAD v3: 16-1791007-C-A
gnomAD v4: 16-1791007-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1791007C>A , CM000678.2:g.1791007C>A GRCh38
NC_000016.9:g.1841008C>A , CM000678.1:g.1841008C>A GRCh37
NC_000016.8:g.1781009C>A NCBI36
NG_011778.1:g.7727G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1411G>T (IGFALS) MANE Select ENSP00000215539.3:p.Ala471Ser
ENST00000215539.3:c.1411G>T (IGFALS) ENSP00000215539.3:p.Ala471Ser
ENST00000415638.3:c.1525G>T (IGFALS) ENSP00000416683.3:p.Ala509Ser
ENST00000569769.1:c.-13+2630G>T (SPSB3) ENSP00000455098.1:n.-13+2630G>T
NM_001146006.1:c.1525G>T (IGFALS) NP_001139478.1:p.Ala509Ser
NM_004970.2:c.1411G>T (IGFALS) NP_004961.1:p.Ala471Ser
NR_027389.1:n.1465G>T (IGFALS)
XM_011522476.1:c.1492G>T (IGFALS) XP_011520778.1:p.Ala498Ser
NM_001146006.2:c.1525G>T (IGFALS) NP_001139478.1:p.Ala509Ser
NM_004970.3:c.1411G>T (IGFALS) MANE Select NP_004961.1:p.Ala471Ser