Canonical Allele Identifier: CA394264087
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1840945T>G (hg19) chr16:g.1790944T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790944T>G , CM000678.2:g.1790944T>G GRCh38
NC_000016.9:g.1840945T>G , CM000678.1:g.1840945T>G GRCh37
NC_000016.8:g.1780946T>G NCBI36
NG_011778.1:g.7790A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1474A>C (IGFALS) MANE Select ENSP00000215539.3:p.Asn492His
ENST00000215539.3:c.1474A>C (IGFALS) ENSP00000215539.3:p.Asn492His
ENST00000415638.3:c.1588A>C (IGFALS) ENSP00000416683.3:p.Asn530His
ENST00000569769.1:c.-13+2693A>C (SPSB3) ENSP00000455098.1:n.-13+2693A>C
NM_001146006.1:c.1588A>C (IGFALS) NP_001139478.1:p.Asn530His
NM_004970.2:c.1474A>C (IGFALS) NP_004961.1:p.Asn492His
NR_027389.1:n.1528A>C (IGFALS)
XM_011522476.1:c.1555A>C (IGFALS) XP_011520778.1:p.Asn519His
NM_001146006.2:c.1588A>C (IGFALS) NP_001139478.1:p.Asn530His
NM_004970.3:c.1474A>C (IGFALS) MANE Select NP_004961.1:p.Asn492His
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