Canonical Allele Identifier: CA493035610
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

gnomAD v4: 16-1791017-G-A
MyVariant Identifiers: chr16:g.1841018G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1791017G>A , CM000678.2:g.1791017G>A GRCh38
NC_000016.9:g.1841018G>A , CM000678.1:g.1841018G>A GRCh37
NC_000016.8:g.1781019G>A NCBI36
NG_011778.1:g.7717C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1401C>T (IGFALS) MANE Select ENSP00000215539.3:p.Arg467=
ENST00000215539.3:c.1401C>T (IGFALS) ENSP00000215539.3:p.Arg467=
ENST00000415638.3:c.1515C>T (IGFALS) ENSP00000416683.3:p.Arg505=
ENST00000569769.1:c.-13+2620C>T (SPSB3) ENSP00000455098.1:n.-13+2620C>T
NM_001146006.1:c.1515C>T (IGFALS) NP_001139478.1:p.Arg505=
NM_004970.2:c.1401C>T (IGFALS) NP_004961.1:p.Arg467=
NR_027389.1:n.1455C>T (IGFALS)
XM_011522476.1:c.1482C>T (IGFALS) XP_011520778.1:p.Arg494=
NM_001146006.2:c.1515C>T (IGFALS) NP_001139478.1:p.Arg505=
NM_004970.3:c.1401C>T (IGFALS) MANE Select NP_004961.1:p.Arg467=