Canonical Allele Identifier: CA360694411

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110082001C>G (hg19) ; chr5:g.110746300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110746300C>G , CM000667.2:g.110746300C>G	GRCh38
NC_000005.9:g.110082001C>G , CM000667.1:g.110082001C>G	GRCh37
NC_000005.8:g.110109900C>G	NCBI36
NG_051334.1:g.13165C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.416C>G MANE Select	ENSP00000348211.3:p.Thr139Ser
ENST00000355943.7:c.416C>G	ENSP00000348211.3:p.Thr139Ser
ENST00000447245.6:c.416C>G	ENSP00000399717.2:p.Thr139Ser
ENST00000502462.6:n.732C>G
ENST00000504098.1:c.-23C>G	ENSP00000425708.1:n.-23C>G
ENST00000508781.5:n.245C>G
ENST00000513807.5:c.-71C>G	ENSP00000421134.1:n.-71C>G
NM_001303249.1:c.416C>G	NP_001290178.1:p.Thr139Ser
NM_001303250.1:c.143C>G	NP_001290179.1:p.Thr48Ser
NM_138773.2:c.416C>G	NP_620128.1:p.Thr139Ser
XM_011543708.1:c.416C>G	XP_011542010.1:p.Thr139Ser
NM_001303249.2:c.416C>G	NP_001290178.1:p.Thr139Ser
NM_001303250.2:c.143C>G	NP_001290179.1:p.Thr48Ser
NM_138773.3:c.416C>G	NP_620128.1:p.Thr139Ser
NR_138151.1:n.564C>G
NM_138773.4:c.416C>G MANE Select	NP_620128.1:p.Thr139Ser
NM_001303249.3:c.416C>G	NP_001290178.1:p.Thr139Ser
NM_001303250.3:c.143C>G	NP_001290179.1:p.Thr48Ser
NR_138151.2:n.529C>G