Canonical Allele Identifier: CA394264092
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1840947T>A (hg19) chr16:g.1790946T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790946T>A , CM000678.2:g.1790946T>A GRCh38
NC_000016.9:g.1840947T>A , CM000678.1:g.1840947T>A GRCh37
NC_000016.8:g.1780948T>A NCBI36
NG_011778.1:g.7788A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1472A>T (IGFALS) MANE Select ENSP00000215539.3:p.His491Leu
ENST00000215539.3:c.1472A>T (IGFALS) ENSP00000215539.3:p.His491Leu
ENST00000415638.3:c.1586A>T (IGFALS) ENSP00000416683.3:p.His529Leu
ENST00000569769.1:c.-13+2691A>T (SPSB3) ENSP00000455098.1:n.-13+2691A>T
NM_001146006.1:c.1586A>T (IGFALS) NP_001139478.1:p.His529Leu
NM_004970.2:c.1472A>T (IGFALS) NP_004961.1:p.His491Leu
NR_027389.1:n.1526A>T (IGFALS)
XM_011522476.1:c.1553A>T (IGFALS) XP_011520778.1:p.His518Leu
NM_001146006.2:c.1586A>T (IGFALS) NP_001139478.1:p.His529Leu
NM_004970.3:c.1472A>T (IGFALS) MANE Select NP_004961.1:p.His491Leu
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