Canonical Allele Identifier: CA360696120

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096974T>A (hg19) ; chr5:g.110761274T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761274T>A , CM000667.2:g.110761274T>A	GRCh38
NC_000005.9:g.110096974T>A , CM000667.1:g.110096974T>A	GRCh37
NC_000005.8:g.110124873T>A	NCBI36
NG_051334.1:g.28139T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.749T>A MANE Select	ENSP00000348211.3:p.Met250Lys
ENST00000355943.7:c.749T>A	ENSP00000348211.3:p.Met250Lys
ENST00000447245.6:c.679-173T>A	ENSP00000399717.2:n.679-173T>A
ENST00000502462.6:n.1065T>A
ENST00000504098.1:c.311T>A	ENSP00000425708.1:p.Met104Lys
ENST00000509432.1:c.110T>A	ENSP00000426604.1:p.Met37Lys
ENST00000513706.2:n.2349T>A
ENST00000513807.5:c.263T>A	ENSP00000421134.1:p.Met88Lys
NM_001303249.1:c.679-173T>A	NP_001290178.1:n.679-173T>A
NM_001303250.1:c.476T>A	NP_001290179.1:p.Met159Lys
NM_138773.2:c.749T>A	NP_620128.1:p.Met250Lys
NM_001303249.2:c.679-173T>A	NP_001290178.1:n.679-173T>A
NM_001303250.2:c.476T>A	NP_001290179.1:p.Met159Lys
NM_138773.3:c.749T>A	NP_620128.1:p.Met250Lys
NR_138151.1:n.1023T>A
NM_138773.4:c.749T>A MANE Select	NP_620128.1:p.Met250Lys
NM_001303249.3:c.679-173T>A	NP_001290178.1:n.679-173T>A
NM_001303250.3:c.476T>A	NP_001290179.1:p.Met159Lys
NR_138151.2:n.988T>A