Canonical Allele Identifier: CA7820200

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs749492423
• ExAC: 16:1840598 T / A
• gnomAD v2: 16-1840598-T-A
• gnomAD v4: 16-1790597-T-A
• MyVariant Identifiers: chr16:g.1840598T>A (hg19) ; chr16:g.1790597T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790597T>A , CM000678.2:g.1790597T>A	GRCh38
NC_000016.9:g.1840598T>A , CM000678.1:g.1840598T>A	GRCh37
NC_000016.8:g.1780599T>A	NCBI36
NG_011778.1:g.8137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*3A>T (IGFALS) MANE Select	ENSP00000215539.3:n.*3A>T
ENST00000215539.3:c.*3A>T (IGFALS)	ENSP00000215539.3:n.*3A>T
ENST00000415638.3:c.*3A>T (IGFALS)	ENSP00000416683.3:n.*3A>T
ENST00000569769.1:c.-13+3040A>T (SPSB3)	ENSP00000455098.1:n.-13+3040A>T
NM_001146006.1:c.*3A>T (IGFALS)	NP_001139478.1:n.*3A>T
NM_004970.2:c.*3A>T (IGFALS)	NP_004961.1:n.*3A>T
NR_027389.1:n.1875A>T (IGFALS)
XM_011522476.1:c.*3A>T (IGFALS)	XP_011520778.1:n.*3A>T
NM_001146006.2:c.*3A>T (IGFALS)	NP_001139478.1:n.*3A>T
NM_004970.3:c.*3A>T (IGFALS) MANE Select	NP_004961.1:n.*3A>T