Canonical Allele Identifier: CA445802332
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110081999C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746298C>G , CM000667.2:g.110746298C>G GRCh38
NC_000005.9:g.110081999C>G , CM000667.1:g.110081999C>G GRCh37
NC_000005.8:g.110109898C>G NCBI36
NG_051334.1:g.13163C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.414C>G MANE Select ENSP00000348211.3:p.Leu138=
ENST00000355943.7:c.414C>G ENSP00000348211.3:p.Leu138=
ENST00000447245.6:c.414C>G ENSP00000399717.2:p.Leu138=
ENST00000502462.6:n.730C>G
ENST00000504098.1:c.-25C>G ENSP00000425708.1:n.-25C>G
ENST00000508781.5:n.243C>G
ENST00000513807.5:c.-73C>G ENSP00000421134.1:n.-73C>G
NM_001303249.1:c.414C>G NP_001290178.1:p.Leu138=
NM_001303250.1:c.141C>G NP_001290179.1:p.Leu47=
NM_138773.2:c.414C>G NP_620128.1:p.Leu138=
XM_011543708.1:c.414C>G XP_011542010.1:p.Leu138=
NM_001303249.2:c.414C>G NP_001290178.1:p.Leu138=
NM_001303250.2:c.141C>G NP_001290179.1:p.Leu47=
NM_138773.3:c.414C>G NP_620128.1:p.Leu138=
NR_138151.1:n.562C>G
NM_138773.4:c.414C>G MANE Select NP_620128.1:p.Leu138=
NM_001303249.3:c.414C>G NP_001290178.1:p.Leu138=
NM_001303250.3:c.141C>G NP_001290179.1:p.Leu47=
NR_138151.2:n.527C>G