Canonical Allele Identifier: CA360696110

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096968T>C (hg19) ; chr5:g.110761268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761268T>C , CM000667.2:g.110761268T>C	GRCh38
NC_000005.9:g.110096968T>C , CM000667.1:g.110096968T>C	GRCh37
NC_000005.8:g.110124867T>C	NCBI36
NG_051334.1:g.28133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.743T>C MANE Select	ENSP00000348211.3:p.Ile248Thr
ENST00000355943.7:c.743T>C	ENSP00000348211.3:p.Ile248Thr
ENST00000447245.6:c.679-179T>C	ENSP00000399717.2:n.679-179T>C
ENST00000502462.6:n.1059T>C
ENST00000504098.1:c.305T>C	ENSP00000425708.1:p.Ile102Thr
ENST00000509432.1:c.104T>C	ENSP00000426604.1:p.Ile35Thr
ENST00000513706.2:n.2343T>C
ENST00000513807.5:c.257T>C	ENSP00000421134.1:p.Ile86Thr
NM_001303249.1:c.679-179T>C	NP_001290178.1:n.679-179T>C
NM_001303250.1:c.470T>C	NP_001290179.1:p.Ile157Thr
NM_138773.2:c.743T>C	NP_620128.1:p.Ile248Thr
NM_001303249.2:c.679-179T>C	NP_001290178.1:n.679-179T>C
NM_001303250.2:c.470T>C	NP_001290179.1:p.Ile157Thr
NM_138773.3:c.743T>C	NP_620128.1:p.Ile248Thr
NR_138151.1:n.1017T>C
NM_138773.4:c.743T>C MANE Select	NP_620128.1:p.Ile248Thr
NM_001303249.3:c.679-179T>C	NP_001290178.1:n.679-179T>C
NM_001303250.3:c.470T>C	NP_001290179.1:p.Ile157Thr
NR_138151.2:n.982T>C