Canonical Allele Identifier: CA360696036

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096935T>A (hg19) ; chr5:g.110761235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761235T>A , CM000667.2:g.110761235T>A	GRCh38
NC_000005.9:g.110096935T>A , CM000667.1:g.110096935T>A	GRCh37
NC_000005.8:g.110124834T>A	NCBI36
NG_051334.1:g.28100T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.710T>A MANE Select	ENSP00000348211.3:p.Leu237Ter
ENST00000355943.7:c.710T>A	ENSP00000348211.3:p.Leu237Ter
ENST00000447245.6:c.679-212T>A	ENSP00000399717.2:n.679-212T>A
ENST00000502462.6:n.1026T>A
ENST00000504098.1:c.272T>A	ENSP00000425708.1:p.Leu91Ter
ENST00000509432.1:c.71T>A	ENSP00000426604.1:p.Leu24Ter
ENST00000513706.2:n.2310T>A
ENST00000513807.5:c.224T>A	ENSP00000421134.1:p.Leu75Ter
NM_001303249.1:c.679-212T>A	NP_001290178.1:n.679-212T>A
NM_001303250.1:c.437T>A	NP_001290179.1:p.Leu146Ter
NM_138773.2:c.710T>A	NP_620128.1:p.Leu237Ter
NM_001303249.2:c.679-212T>A	NP_001290178.1:n.679-212T>A
NM_001303250.2:c.437T>A	NP_001290179.1:p.Leu146Ter
NM_138773.3:c.710T>A	NP_620128.1:p.Leu237Ter
NR_138151.1:n.984T>A
NM_138773.4:c.710T>A MANE Select	NP_620128.1:p.Leu237Ter
NM_001303249.3:c.679-212T>A	NP_001290178.1:n.679-212T>A
NM_001303250.3:c.437T>A	NP_001290179.1:p.Leu146Ter
NR_138151.2:n.949T>A