Canonical Allele Identifier: CA360694359
Gene: SLC25A46 HGNC NCBI

Linked Data

dbSNP Id: rs1799816187
MyVariant Identifiers: chr5:g.110081978C>G (hg19) chr5:g.110746277C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746277C>G , CM000667.2:g.110746277C>G GRCh38
NC_000005.9:g.110081978C>G , CM000667.1:g.110081978C>G GRCh37
NC_000005.8:g.110109877C>G NCBI36
NG_051334.1:g.13142C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.393C>G MANE Select ENSP00000348211.3:p.Tyr131Ter
ENST00000355943.7:c.393C>G ENSP00000348211.3:p.Tyr131Ter
ENST00000447245.6:c.393C>G ENSP00000399717.2:p.Tyr131Ter
ENST00000502462.6:n.709C>G
ENST00000504098.1:c.-46C>G ENSP00000425708.1:n.-46C>G
ENST00000508781.5:n.222C>G
ENST00000513807.5:c.-94C>G ENSP00000421134.1:n.-94C>G
NM_001303249.1:c.393C>G NP_001290178.1:p.Tyr131Ter
NM_001303250.1:c.120C>G NP_001290179.1:p.Tyr40Ter
NM_138773.2:c.393C>G NP_620128.1:p.Tyr131Ter
XM_011543708.1:c.393C>G XP_011542010.1:p.Tyr131Ter
NM_001303249.2:c.393C>G NP_001290178.1:p.Tyr131Ter
NM_001303250.2:c.120C>G NP_001290179.1:p.Tyr40Ter
NM_138773.3:c.393C>G NP_620128.1:p.Tyr131Ter
NR_138151.1:n.541C>G
NM_138773.4:c.393C>G MANE Select NP_620128.1:p.Tyr131Ter
NM_001303249.3:c.393C>G NP_001290178.1:p.Tyr131Ter
NM_001303250.3:c.120C>G NP_001290179.1:p.Tyr40Ter
NR_138151.2:n.506C>G
Search 100 bp 5'
Search 100 bp 3'