Canonical Allele Identifier: CA360694350
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746274T>A , CM000667.2:g.110746274T>A GRCh38
NC_000005.9:g.110081975T>A , CM000667.1:g.110081975T>A GRCh37
NC_000005.8:g.110109874T>A NCBI36
NG_051334.1:g.13139T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.390T>A MANE Select ENSP00000348211.3:p.Asn130Lys
ENST00000355943.7:c.390T>A ENSP00000348211.3:p.Asn130Lys
ENST00000447245.6:c.390T>A ENSP00000399717.2:p.Asn130Lys
ENST00000502462.6:n.706T>A
ENST00000504098.1:c.-49T>A ENSP00000425708.1:n.-49T>A
ENST00000508781.5:n.219T>A
ENST00000513807.5:c.-97T>A ENSP00000421134.1:n.-97T>A
NM_001303249.1:c.390T>A NP_001290178.1:p.Asn130Lys
NM_001303250.1:c.117T>A NP_001290179.1:p.Asn39Lys
NM_138773.2:c.390T>A NP_620128.1:p.Asn130Lys
XM_011543708.1:c.390T>A XP_011542010.1:p.Asn130Lys
NM_001303249.2:c.390T>A NP_001290178.1:p.Asn130Lys
NM_001303250.2:c.117T>A NP_001290179.1:p.Asn39Lys
NM_138773.3:c.390T>A NP_620128.1:p.Asn130Lys
NR_138151.1:n.538T>A
NM_138773.4:c.390T>A MANE Select NP_620128.1:p.Asn130Lys
NM_001303249.3:c.390T>A NP_001290178.1:p.Asn130Lys
NM_001303250.3:c.117T>A NP_001290179.1:p.Asn39Lys
NR_138151.2:n.503T>A