Canonical Allele Identifier: CA360694351
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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