Canonical Allele Identifier: CA394263752
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

dbSNP Id: rs1336929713
gnomAD v2: 16-1840830-C-T
gnomAD v3: 16-1790829-C-T
gnomAD v4: 16-1790829-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790829C>T , CM000678.2:g.1790829C>T GRCh38
NC_000016.9:g.1840830C>T , CM000678.1:g.1840830C>T GRCh37
NC_000016.8:g.1780831C>T NCBI36
NG_011778.1:g.7905G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1589G>A (IGFALS) MANE Select ENSP00000215539.3:p.Arg530His
ENST00000215539.3:c.1589G>A (IGFALS) ENSP00000215539.3:p.Arg530His
ENST00000415638.3:c.1703G>A (IGFALS) ENSP00000416683.3:p.Arg568His
ENST00000569769.1:c.-13+2808G>A (SPSB3) ENSP00000455098.1:n.-13+2808G>A
NM_001146006.1:c.1703G>A (IGFALS) NP_001139478.1:p.Arg568His
NM_004970.2:c.1589G>A (IGFALS) NP_004961.1:p.Arg530His
NR_027389.1:n.1643G>A (IGFALS)
XM_011522476.1:c.1670G>A (IGFALS) XP_011520778.1:p.Arg557His
NM_001146006.2:c.1703G>A (IGFALS) NP_001139478.1:p.Arg568His
NM_004970.3:c.1589G>A (IGFALS) MANE Select NP_004961.1:p.Arg530His