Canonical Allele Identifier: CA394263808
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

gnomAD v4: 16-1790847-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790847T>C , CM000678.2:g.1790847T>C GRCh38
NC_000016.9:g.1840848T>C , CM000678.1:g.1840848T>C GRCh37
NC_000016.8:g.1780849T>C NCBI36
NG_011778.1:g.7887A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1571A>G (IGFALS) MANE Select ENSP00000215539.3:p.Gln524Arg
ENST00000215539.3:c.1571A>G (IGFALS) ENSP00000215539.3:p.Gln524Arg
ENST00000415638.3:c.1685A>G (IGFALS) ENSP00000416683.3:p.Gln562Arg
ENST00000569769.1:c.-13+2790A>G (SPSB3) ENSP00000455098.1:n.-13+2790A>G
NM_001146006.1:c.1685A>G (IGFALS) NP_001139478.1:p.Gln562Arg
NM_004970.2:c.1571A>G (IGFALS) NP_004961.1:p.Gln524Arg
NR_027389.1:n.1625A>G (IGFALS)
XM_011522476.1:c.1652A>G (IGFALS) XP_011520778.1:p.Gln551Arg
NM_001146006.2:c.1685A>G (IGFALS) NP_001139478.1:p.Gln562Arg
NM_004970.3:c.1571A>G (IGFALS) MANE Select NP_004961.1:p.Gln524Arg