Canonical Allele Identifier: CA1572440027
Gene: SLC25A46 HGNC NCBI

Linked Data

dbSNP Id: rs1799816093

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746276dup , CM000667.2:g.110746276dup GRCh38
NC_000005.9:g.110081977dup , CM000667.1:g.110081977dup GRCh37
NC_000005.8:g.110109876dup NCBI36
NG_051334.1:g.13141dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.392dup MANE Select ENSP00000348211.3:p.Tyr131Ter
ENST00000355943.7:c.392dup ENSP00000348211.3:p.Tyr131Ter
ENST00000447245.6:c.392dup ENSP00000399717.2:p.Tyr131Ter
ENST00000502462.6:n.708dup
ENST00000504098.1:c.-47dup ENSP00000425708.1:n.-47dup
ENST00000508781.5:n.221dup
ENST00000513807.5:c.-95dup ENSP00000421134.1:n.-95dup
NM_001303249.1:c.392dup NP_001290178.1:p.Tyr131Ter
NM_001303250.1:c.119dup NP_001290179.1:p.Tyr40Ter
NM_138773.2:c.392dup NP_620128.1:p.Tyr131Ter
XM_011543708.1:c.392dup XP_011542010.1:p.Tyr131Ter
NM_001303249.2:c.392dup NP_001290178.1:p.Tyr131Ter
NM_001303250.2:c.119dup NP_001290179.1:p.Tyr40Ter
NM_138773.3:c.392dup NP_620128.1:p.Tyr131Ter
NR_138151.1:n.540dup
NM_138773.4:c.392dup MANE Select NP_620128.1:p.Tyr131Ter
NM_001303249.3:c.392dup NP_001290178.1:p.Tyr131Ter
NM_001303250.3:c.119dup NP_001290179.1:p.Tyr40Ter
NR_138151.2:n.505dup