Canonical Allele Identifier: CA2631054661

Gene: IGFALS SPSB3

Linked Data

• gnomAD v4: 16-1790594-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790594A>G , CM000678.2:g.1790594A>G	GRCh38
NC_000016.9:g.1840595A>G , CM000678.1:g.1840595A>G	GRCh37
NC_000016.8:g.1780596A>G	NCBI36
NG_011778.1:g.8140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.*6T>C (IGFALS) MANE Select	ENSP00000215539.3:n.*6T>C
ENST00000215539.3:c.*6T>C (IGFALS)	ENSP00000215539.3:n.*6T>C
ENST00000415638.3:c.*6T>C (IGFALS)	ENSP00000416683.3:n.*6T>C
ENST00000569769.1:c.-13+3043T>C (SPSB3)	ENSP00000455098.1:n.-13+3043T>C
NM_001146006.1:c.*6T>C (IGFALS)	NP_001139478.1:n.*6T>C
NM_004970.2:c.*6T>C (IGFALS)	NP_004961.1:n.*6T>C
NR_027389.1:n.1878T>C (IGFALS)
XM_011522476.1:c.*6T>C (IGFALS)	XP_011520778.1:n.*6T>C
NM_001146006.2:c.*6T>C (IGFALS)	NP_001139478.1:n.*6T>C
NM_004970.3:c.*6T>C (IGFALS) MANE Select	NP_004961.1:n.*6T>C