Canonical Allele Identifier: CA360696118

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096973A>T (hg19) ; chr5:g.110761273A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761273A>T , CM000667.2:g.110761273A>T	GRCh38
NC_000005.9:g.110096973A>T , CM000667.1:g.110096973A>T	GRCh37
NC_000005.8:g.110124872A>T	NCBI36
NG_051334.1:g.28138A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.748A>T MANE Select	ENSP00000348211.3:p.Met250Leu
ENST00000355943.7:c.748A>T	ENSP00000348211.3:p.Met250Leu
ENST00000447245.6:c.679-174A>T	ENSP00000399717.2:n.679-174A>T
ENST00000502462.6:n.1064A>T
ENST00000504098.1:c.310A>T	ENSP00000425708.1:p.Met104Leu
ENST00000509432.1:c.109A>T	ENSP00000426604.1:p.Met37Leu
ENST00000513706.2:n.2348A>T
ENST00000513807.5:c.262A>T	ENSP00000421134.1:p.Met88Leu
NM_001303249.1:c.679-174A>T	NP_001290178.1:n.679-174A>T
NM_001303250.1:c.475A>T	NP_001290179.1:p.Met159Leu
NM_138773.2:c.748A>T	NP_620128.1:p.Met250Leu
NM_001303249.2:c.679-174A>T	NP_001290178.1:n.679-174A>T
NM_001303250.2:c.475A>T	NP_001290179.1:p.Met159Leu
NM_138773.3:c.748A>T	NP_620128.1:p.Met250Leu
NR_138151.1:n.1022A>T
NM_138773.4:c.748A>T MANE Select	NP_620128.1:p.Met250Leu
NM_001303249.3:c.679-174A>T	NP_001290178.1:n.679-174A>T
NM_001303250.3:c.475A>T	NP_001290179.1:p.Met159Leu
NR_138151.2:n.987A>T