Canonical Allele Identifier: CA357001

Gene: ISCU

Linked Data

• ClinVar Variation Id: 223141
• ClinVar RCV Id: RCV000208760 ; RCV002517413
• dbSNP Id: rs767000507
• gnomAD v2: 12-108961426-G-C
• gnomAD v3: 12-108567650-G-C
• gnomAD v4: 12-108567650-G-C
• MyVariant Identifiers: chr12:g.108961426G>C (hg19) ; chr12:g.108567650G>C (hg38)
• PubMed: PMID:18296749 ; PMID:18304497 ; PMID:19846308 ; PMID:20206689 ; PMID:20301757

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108567650G>C , CM000674.2:g.108567650G>C	GRCh38
NC_000012.11:g.108961426G>C , CM000674.1:g.108961426G>C	GRCh37
NC_000012.10:g.107485555G>C	NCBI36
NG_011857.1:g.10133G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311893.14:c.418+382G>C MANE Select	ENSP00000310623.9:n.418+382G>C
ENST00000311893.13:c.418+382G>C	ENSP00000310623.9:n.418+382G>C
ENST00000392807.8:c.343+382G>C	ENSP00000376554.4:n.343+382G>C
ENST00000431221.6:c.419-270G>C	ENSP00000411108.2:n.419-270G>C
ENST00000535729.5:c.419-8G>C	ENSP00000445598.1:n.419-8G>C
ENST00000539580.5:c.*374-8G>C	ENSP00000437854.1:n.*374-8G>C
ENST00000539593.1:c.*335G>C	ENSP00000443272.1:n.*335G>C
ENST00000545932.5:n.2002-8G>C
ENST00000547005.5:c.419-8G>C	ENSP00000446606.1:n.419-8G>C
NM_001301140.1:c.419-8G>C	NP_001288069.1:n.419-8G>C
NM_001301141.1:c.419-270G>C	NP_001288070.1:n.419-270G>C
NM_014301.4:c.343+382G>C	NP_055116.1:n.343+382G>C
NM_213595.3:c.418+382G>C	NP_998760.1:n.418+382G>C
XM_005268761.3:c.419-8G>C	XP_005268818.1:n.419-8G>C
XM_011538100.1:c.344-8G>C	XP_011536402.1:n.344-8G>C
XM_011538101.1:c.340-1181G>C	XP_011536403.1:n.340-1181G>C
XR_429087.2:n.1579-8G>C
NM_001320042.1:c.419-8G>C	NP_001306971.1:n.419-8G>C
NR_135127.1:n.1675-8G>C
XM_011538100.2:c.344-8G>C	XP_011536402.1:n.344-8G>C
XM_011538101.2:c.340-1181G>C	XP_011536403.1:n.340-1181G>C
NM_213595.4:c.418+382G>C MANE Select	NP_998760.1:n.418+382G>C