Canonical Allele Identifier: CA360696496

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097154T>A (hg19) ; chr5:g.110761454T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761454T>A , CM000667.2:g.110761454T>A	GRCh38
NC_000005.9:g.110097154T>A , CM000667.1:g.110097154T>A	GRCh37
NC_000005.8:g.110125053T>A	NCBI36
NG_051334.1:g.28319T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.929T>A MANE Select	ENSP00000348211.3:p.Leu310Ter
ENST00000355943.7:c.929T>A	ENSP00000348211.3:p.Leu310Ter
ENST00000447245.6:c.686T>A	ENSP00000399717.2:p.Leu229Ter
ENST00000502462.6:n.1245T>A
ENST00000504098.1:c.491T>A	ENSP00000425708.1:p.Leu164Ter
ENST00000509432.1:c.290T>A	ENSP00000426604.1:p.Leu97Ter
ENST00000513706.2:n.2529T>A
ENST00000513807.5:c.443T>A	ENSP00000421134.1:p.Leu148Ter
NM_001303249.1:c.686T>A	NP_001290178.1:p.Leu229Ter
NM_001303250.1:c.656T>A	NP_001290179.1:p.Leu219Ter
NM_138773.2:c.929T>A	NP_620128.1:p.Leu310Ter
NM_001303249.2:c.686T>A	NP_001290178.1:p.Leu229Ter
NM_001303250.2:c.656T>A	NP_001290179.1:p.Leu219Ter
NM_138773.3:c.929T>A	NP_620128.1:p.Leu310Ter
NR_138151.1:n.1203T>A
NM_138773.4:c.929T>A MANE Select	NP_620128.1:p.Leu310Ter
NM_001303249.3:c.686T>A	NP_001290178.1:p.Leu229Ter
NM_001303250.3:c.656T>A	NP_001290179.1:p.Leu219Ter
NR_138151.2:n.1168T>A