Canonical Allele Identifier: CA360697990
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761778T>A , CM000667.2:g.110761778T>A GRCh38
NC_000005.9:g.110097478T>A , CM000667.1:g.110097478T>A GRCh37
NC_000005.8:g.110125377T>A NCBI36
NG_051334.1:g.28643T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1253T>A MANE Select ENSP00000348211.3:p.Ile418Asn
ENST00000355943.7:c.1253T>A ENSP00000348211.3:p.Ile418Asn
ENST00000447245.6:c.1010T>A ENSP00000399717.2:p.Ile337Asn
ENST00000504098.1:c.815T>A ENSP00000425708.1:p.Ile272Asn
ENST00000509432.1:c.614T>A ENSP00000426604.1:p.Ile205Asn
ENST00000513706.2:n.2853T>A
ENST00000513807.5:c.767T>A ENSP00000421134.1:p.Ile256Asn
NM_001303249.1:c.1010T>A NP_001290178.1:p.Ile337Asn
NM_001303250.1:c.980T>A NP_001290179.1:p.Ile327Asn
NM_138773.2:c.1253T>A NP_620128.1:p.Ile418Asn
NM_001303249.2:c.1010T>A NP_001290178.1:p.Ile337Asn
NM_001303250.2:c.980T>A NP_001290179.1:p.Ile327Asn
NM_138773.3:c.1253T>A NP_620128.1:p.Ile418Asn
NR_138151.1:n.1527T>A
NM_138773.4:c.1253T>A MANE Select NP_620128.1:p.Ile418Asn
NM_001303249.3:c.1010T>A NP_001290178.1:p.Ile337Asn
NM_001303250.3:c.980T>A NP_001290179.1:p.Ile327Asn
NR_138151.2:n.1492T>A