Canonical Allele Identifier: CA492942772
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

dbSNP Id: rs1897195176
MyVariant Identifiers: chr16:g.1840610A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790609A>C , CM000678.2:g.1790609A>C GRCh38
NC_000016.9:g.1840610A>C , CM000678.1:g.1840610A>C GRCh37
NC_000016.8:g.1780611A>C NCBI36
NG_011778.1:g.8125T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1809T>G (IGFALS) MANE Select ENSP00000215539.3:p.Ala603=
ENST00000215539.3:c.1809T>G (IGFALS) ENSP00000215539.3:p.Ala603=
ENST00000415638.3:c.1923T>G (IGFALS) ENSP00000416683.3:p.Ala641=
ENST00000569769.1:c.-13+3028T>G (SPSB3) ENSP00000455098.1:n.-13+3028T>G
NM_001146006.1:c.1923T>G (IGFALS) NP_001139478.1:p.Ala641=
NM_004970.2:c.1809T>G (IGFALS) NP_004961.1:p.Ala603=
NR_027389.1:n.1863T>G (IGFALS)
XM_011522476.1:c.1890T>G (IGFALS) XP_011520778.1:p.Ala630=
NM_001146006.2:c.1923T>G (IGFALS) NP_001139478.1:p.Ala641=
NM_004970.3:c.1809T>G (IGFALS) MANE Select NP_004961.1:p.Ala603=