Canonical Allele Identifier: CA7820303
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

dbSNP Id: rs752485607
gnomAD v2: 16-1840980-G-A
gnomAD v4: 16-1790979-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790979G>A , CM000678.2:g.1790979G>A GRCh38
NC_000016.9:g.1840980G>A , CM000678.1:g.1840980G>A GRCh37
NC_000016.8:g.1780981G>A NCBI36
NG_011778.1:g.7755C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1439C>T (IGFALS) MANE Select ENSP00000215539.3:p.Pro480Leu
ENST00000215539.3:c.1439C>T (IGFALS) ENSP00000215539.3:p.Pro480Leu
ENST00000415638.3:c.1553C>T (IGFALS) ENSP00000416683.3:p.Pro518Leu
ENST00000569769.1:c.-13+2658C>T (SPSB3) ENSP00000455098.1:n.-13+2658C>T
NM_001146006.1:c.1553C>T (IGFALS) NP_001139478.1:p.Pro518Leu
NM_004970.2:c.1439C>T (IGFALS) NP_004961.1:p.Pro480Leu
NR_027389.1:n.1493C>T (IGFALS)
XM_011522476.1:c.1520C>T (IGFALS) XP_011520778.1:p.Pro507Leu
NM_001146006.2:c.1553C>T (IGFALS) NP_001139478.1:p.Pro518Leu
NM_004970.3:c.1439C>T (IGFALS) MANE Select NP_004961.1:p.Pro480Leu