Canonical Allele Identifier: CA2575873155

Gene: IGFALS SPSB3

Linked Data

• gnomAD v4: 16-1790556-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790556G>T , CM000678.2:g.1790556G>T	GRCh38
NC_000016.9:g.1840557G>T , CM000678.1:g.1840557G>T	GRCh37
NC_000016.8:g.1780558G>T	NCBI36
NG_011778.1:g.8178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*44C>A (IGFALS) MANE Select	ENSP00000215539.3:n.*44C>A
ENST00000215539.3:c.*44C>A (IGFALS)	ENSP00000215539.3:n.*44C>A
ENST00000415638.3:c.*44C>A (IGFALS)	ENSP00000416683.3:n.*44C>A
ENST00000569769.1:c.-13+3081C>A (SPSB3)	ENSP00000455098.1:n.-13+3081C>A
NM_001146006.1:c.*44C>A (IGFALS)	NP_001139478.1:n.*44C>A
NM_004970.2:c.*44C>A (IGFALS)	NP_004961.1:n.*44C>A
NR_027389.1:n.1916C>A (IGFALS)
XM_011522476.1:c.*44C>A (IGFALS)	XP_011520778.1:n.*44C>A
NM_001146006.2:c.*44C>A (IGFALS)	NP_001139478.1:n.*44C>A
NM_004970.3:c.*44C>A (IGFALS) MANE Select	NP_004961.1:n.*44C>A