Canonical Allele Identifier: CA445964770
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110097305T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761605T>C , CM000667.2:g.110761605T>C GRCh38
NC_000005.9:g.110097305T>C , CM000667.1:g.110097305T>C GRCh37
NC_000005.8:g.110125204T>C NCBI36
NG_051334.1:g.28470T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1080T>C MANE Select ENSP00000348211.3:p.Leu360=
ENST00000355943.7:c.1080T>C ENSP00000348211.3:p.Leu360=
ENST00000447245.6:c.837T>C ENSP00000399717.2:p.Leu279=
ENST00000502462.6:n.1396T>C
ENST00000504098.1:c.642T>C ENSP00000425708.1:p.Leu214=
ENST00000509432.1:c.441T>C ENSP00000426604.1:p.Leu147=
ENST00000513706.2:n.2680T>C
ENST00000513807.5:c.594T>C ENSP00000421134.1:p.Leu198=
NM_001303249.1:c.837T>C NP_001290178.1:p.Leu279=
NM_001303250.1:c.807T>C NP_001290179.1:p.Leu269=
NM_138773.2:c.1080T>C NP_620128.1:p.Leu360=
NM_001303249.2:c.837T>C NP_001290178.1:p.Leu279=
NM_001303250.2:c.807T>C NP_001290179.1:p.Leu269=
NM_138773.3:c.1080T>C NP_620128.1:p.Leu360=
NR_138151.1:n.1354T>C
NM_138773.4:c.1080T>C MANE Select NP_620128.1:p.Leu360=
NM_001303249.3:c.837T>C NP_001290178.1:p.Leu279=
NM_001303250.3:c.807T>C NP_001290179.1:p.Leu269=
NR_138151.2:n.1319T>C