Canonical Allele Identifier: CA360697680

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097402A>C (hg19) ; chr5:g.110761702A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761702A>C , CM000667.2:g.110761702A>C	GRCh38
NC_000005.9:g.110097402A>C , CM000667.1:g.110097402A>C	GRCh37
NC_000005.8:g.110125301A>C	NCBI36
NG_051334.1:g.28567A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1177A>C MANE Select	ENSP00000348211.3:p.Ile393Leu
ENST00000355943.7:c.1177A>C	ENSP00000348211.3:p.Ile393Leu
ENST00000447245.6:c.934A>C	ENSP00000399717.2:p.Ile312Leu
ENST00000504098.1:c.739A>C	ENSP00000425708.1:p.Ile247Leu
ENST00000509432.1:c.538A>C	ENSP00000426604.1:p.Ile180Leu
ENST00000513706.2:n.2777A>C
ENST00000513807.5:c.691A>C	ENSP00000421134.1:p.Ile231Leu
NM_001303249.1:c.934A>C	NP_001290178.1:p.Ile312Leu
NM_001303250.1:c.904A>C	NP_001290179.1:p.Ile302Leu
NM_138773.2:c.1177A>C	NP_620128.1:p.Ile393Leu
NM_001303249.2:c.934A>C	NP_001290178.1:p.Ile312Leu
NM_001303250.2:c.904A>C	NP_001290179.1:p.Ile302Leu
NM_138773.3:c.1177A>C	NP_620128.1:p.Ile393Leu
NR_138151.1:n.1451A>C
NM_138773.4:c.1177A>C MANE Select	NP_620128.1:p.Ile393Leu
NM_001303249.3:c.934A>C	NP_001290178.1:p.Ile312Leu
NM_001303250.3:c.904A>C	NP_001290179.1:p.Ile302Leu
NR_138151.2:n.1416A>C