Canonical Allele Identifier: CA2631054536

Gene: IGFALS SPSB3

Linked Data

• gnomAD v4: 16-1790483-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790483C>A , CM000678.2:g.1790483C>A	GRCh38
NC_000016.9:g.1840484C>A , CM000678.1:g.1840484C>A	GRCh37
NC_000016.8:g.1780485C>A	NCBI36
NG_011778.1:g.8251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*117G>T (IGFALS) MANE Select	ENSP00000215539.3:n.*117G>T
ENST00000215539.3:c.*117G>T (IGFALS)	ENSP00000215539.3:n.*117G>T
ENST00000415638.3:c.*117G>T (IGFALS)	ENSP00000416683.3:n.*117G>T
ENST00000569769.1:c.-13+3154G>T (SPSB3)	ENSP00000455098.1:n.-13+3154G>T
NM_001146006.1:c.*117G>T (IGFALS)	NP_001139478.1:n.*117G>T
NM_004970.2:c.*117G>T (IGFALS)	NP_004961.1:n.*117G>T
NR_027389.1:n.1989G>T (IGFALS)
XM_011522476.1:c.*117G>T (IGFALS)	XP_011520778.1:n.*117G>T
NM_001146006.2:c.*117G>T (IGFALS)	NP_001139478.1:n.*117G>T
NM_004970.3:c.*117G>T (IGFALS) MANE Select	NP_004961.1:n.*117G>T