Canonical Allele Identifier: CA16042259
Gene: SLC25A46 HGNC NCBI

Linked Data

ClinVar Variation Id: 372241
ClinVar RCV Id: RCV000412634 RCV002473001
dbSNP Id: rs1057518750
MyVariant Identifiers: chr5:g.110097223C>T (hg19) chr5:g.110761523C>T (hg38)
PubMed: PMID:26168012
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761523C>T , CM000667.2:g.110761523C>T GRCh38
NC_000005.9:g.110097223C>T , CM000667.1:g.110097223C>T GRCh37
NC_000005.8:g.110125122C>T NCBI36
NG_051334.1:g.28388C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.998C>T MANE Select ENSP00000348211.3:p.Pro333Leu
ENST00000355943.7:c.998C>T ENSP00000348211.3:p.Pro333Leu
ENST00000447245.6:c.755C>T ENSP00000399717.2:p.Pro252Leu
ENST00000502462.6:n.1314C>T
ENST00000504098.1:c.560C>T ENSP00000425708.1:p.Pro187Leu
ENST00000509432.1:c.359C>T ENSP00000426604.1:p.Pro120Leu
ENST00000513706.2:n.2598C>T
ENST00000513807.5:c.512C>T ENSP00000421134.1:p.Pro171Leu
NM_001303249.1:c.755C>T NP_001290178.1:p.Pro252Leu
NM_001303250.1:c.725C>T NP_001290179.1:p.Pro242Leu
NM_138773.2:c.998C>T NP_620128.1:p.Pro333Leu
NM_001303249.2:c.755C>T NP_001290178.1:p.Pro252Leu
NM_001303250.2:c.725C>T NP_001290179.1:p.Pro242Leu
NM_138773.3:c.998C>T NP_620128.1:p.Pro333Leu
NR_138151.1:n.1272C>T
NM_138773.4:c.998C>T MANE Select NP_620128.1:p.Pro333Leu
NM_001303249.3:c.755C>T NP_001290178.1:p.Pro252Leu
NM_001303250.3:c.725C>T NP_001290179.1:p.Pro242Leu
NR_138151.2:n.1237C>T
Search 100 bp 5'
Search 100 bp 3'