Canonical Allele Identifier: CA5108230

Gene: ISCA1

Linked Data

• ClinVar Variation Id: 375415
• ClinVar RCV Id: RCV000497255 ; RCV000508655
• dbSNP Id: rs776679653
• ExAC: 9:88881089 C / T
• gnomAD v2: 9-88881089-C-T
• gnomAD v3: 9-86266174-C-T
• gnomAD v4: 9-86266174-C-T
• MyVariant Identifiers: chr9:g.88881089C>T (hg19) ; chr9:g.86266174C>T (hg38)
• PubMed: PMID:28356563

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.86266174C>T , CM000671.2:g.86266174C>T	GRCh38
NC_000009.11:g.88881089C>T , CM000671.1:g.88881089C>T	GRCh37
NC_000009.10:g.88070909C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375991.9:c.259G>A MANE Select	ENSP00000365159.4:p.Glu87Lys
ENST00000637705.1:c.196G>A	ENSP00000489740.1:p.Glu66Lys
ENST00000311534.6:c.-36G>A	ENSP00000339003.4:n.-36G>A
ENST00000375991.8:c.259G>A	ENSP00000365159.4:p.Glu87Lys
NM_030940.3:c.259G>A	NP_112202.2:p.Glu87Lys
NM_030940.4:c.259G>A MANE Select	NP_112202.2:p.Glu87Lys