Canonical Allele Identifier: CA2575873141
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790503T>G , CM000678.2:g.1790503T>G GRCh38
NC_000016.9:g.1840504T>G , CM000678.1:g.1840504T>G GRCh37
NC_000016.8:g.1780505T>G NCBI36
NG_011778.1:g.8231A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.*97A>C (IGFALS) MANE Select ENSP00000215539.3:n.*97A>C
ENST00000215539.3:c.*97A>C (IGFALS) ENSP00000215539.3:n.*97A>C
ENST00000415638.3:c.*97A>C (IGFALS) ENSP00000416683.3:n.*97A>C
ENST00000569769.1:c.-13+3134A>C (SPSB3) ENSP00000455098.1:n.-13+3134A>C
NM_001146006.1:c.*97A>C (IGFALS) NP_001139478.1:n.*97A>C
NM_004970.2:c.*97A>C (IGFALS) NP_004961.1:n.*97A>C
NR_027389.1:n.1969A>C (IGFALS)
XM_011522476.1:c.*97A>C (IGFALS) XP_011520778.1:n.*97A>C
NM_001146006.2:c.*97A>C (IGFALS) NP_001139478.1:n.*97A>C
NM_004970.3:c.*97A>C (IGFALS) MANE Select NP_004961.1:n.*97A>C