Canonical Allele Identifier: CA445964715
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110097464T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761764T>A , CM000667.2:g.110761764T>A GRCh38
NC_000005.9:g.110097464T>A , CM000667.1:g.110097464T>A GRCh37
NC_000005.8:g.110125363T>A NCBI36
NG_051334.1:g.28629T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1239T>A MANE Select ENSP00000348211.3:p.Leu413=
ENST00000355943.7:c.1239T>A ENSP00000348211.3:p.Leu413=
ENST00000447245.6:c.996T>A ENSP00000399717.2:p.Leu332=
ENST00000504098.1:c.801T>A ENSP00000425708.1:p.Leu267=
ENST00000509432.1:c.600T>A ENSP00000426604.1:p.Leu200=
ENST00000513706.2:n.2839T>A
ENST00000513807.5:c.753T>A ENSP00000421134.1:p.Leu251=
NM_001303249.1:c.996T>A NP_001290178.1:p.Leu332=
NM_001303250.1:c.966T>A NP_001290179.1:p.Leu322=
NM_138773.2:c.1239T>A NP_620128.1:p.Leu413=
NM_001303249.2:c.996T>A NP_001290178.1:p.Leu332=
NM_001303250.2:c.966T>A NP_001290179.1:p.Leu322=
NM_138773.3:c.1239T>A NP_620128.1:p.Leu413=
NR_138151.1:n.1513T>A
NM_138773.4:c.1239T>A MANE Select NP_620128.1:p.Leu413=
NM_001303249.3:c.996T>A NP_001290178.1:p.Leu332=
NM_001303250.3:c.966T>A NP_001290179.1:p.Leu322=
NR_138151.2:n.1478T>A