Canonical Allele Identifier: CA493035763
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1840970C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790969C>T , CM000678.2:g.1790969C>T GRCh38
NC_000016.9:g.1840970C>T , CM000678.1:g.1840970C>T GRCh37
NC_000016.8:g.1780971C>T NCBI36
NG_011778.1:g.7765G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1449G>A (IGFALS) MANE Select ENSP00000215539.3:p.Arg483=
ENST00000215539.3:c.1449G>A (IGFALS) ENSP00000215539.3:p.Arg483=
ENST00000415638.3:c.1563G>A (IGFALS) ENSP00000416683.3:p.Arg521=
ENST00000569769.1:c.-13+2668G>A (SPSB3) ENSP00000455098.1:n.-13+2668G>A
NM_001146006.1:c.1563G>A (IGFALS) NP_001139478.1:p.Arg521=
NM_004970.2:c.1449G>A (IGFALS) NP_004961.1:p.Arg483=
NR_027389.1:n.1503G>A (IGFALS)
XM_011522476.1:c.1530G>A (IGFALS) XP_011520778.1:p.Arg510=
NM_001146006.2:c.1563G>A (IGFALS) NP_001139478.1:p.Arg521=
NM_004970.3:c.1449G>A (IGFALS) MANE Select NP_004961.1:p.Arg483=