Canonical Allele Identifier: CA394263910
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

dbSNP Id: rs1343652907
gnomAD v2: 16-1840882-G-C
gnomAD v4: 16-1790881-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790881G>C , CM000678.2:g.1790881G>C GRCh38
NC_000016.9:g.1840882G>C , CM000678.1:g.1840882G>C GRCh37
NC_000016.8:g.1780883G>C NCBI36
NG_011778.1:g.7853C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1537C>G (IGFALS) MANE Select ENSP00000215539.3:p.Leu513Val
ENST00000215539.3:c.1537C>G (IGFALS) ENSP00000215539.3:p.Leu513Val
ENST00000415638.3:c.1651C>G (IGFALS) ENSP00000416683.3:p.Leu551Val
ENST00000569769.1:c.-13+2756C>G (SPSB3) ENSP00000455098.1:n.-13+2756C>G
NM_001146006.1:c.1651C>G (IGFALS) NP_001139478.1:p.Leu551Val
NM_004970.2:c.1537C>G (IGFALS) NP_004961.1:p.Leu513Val
NR_027389.1:n.1591C>G (IGFALS)
XM_011522476.1:c.1618C>G (IGFALS) XP_011520778.1:p.Leu540Val
NM_001146006.2:c.1651C>G (IGFALS) NP_001139478.1:p.Leu551Val
NM_004970.3:c.1537C>G (IGFALS) MANE Select NP_004961.1:p.Leu513Val