Canonical Allele Identifier: CA360697554

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097372T>C (hg19) ; chr5:g.110761672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761672T>C , CM000667.2:g.110761672T>C	GRCh38
NC_000005.9:g.110097372T>C , CM000667.1:g.110097372T>C	GRCh37
NC_000005.8:g.110125271T>C	NCBI36
NG_051334.1:g.28537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1147T>C MANE Select	ENSP00000348211.3:p.Phe383Leu
ENST00000355943.7:c.1147T>C	ENSP00000348211.3:p.Phe383Leu
ENST00000447245.6:c.904T>C	ENSP00000399717.2:p.Phe302Leu
ENST00000504098.1:c.709T>C	ENSP00000425708.1:p.Phe237Leu
ENST00000509432.1:c.508T>C	ENSP00000426604.1:p.Phe170Leu
ENST00000513706.2:n.2747T>C
ENST00000513807.5:c.661T>C	ENSP00000421134.1:p.Phe221Leu
NM_001303249.1:c.904T>C	NP_001290178.1:p.Phe302Leu
NM_001303250.1:c.874T>C	NP_001290179.1:p.Phe292Leu
NM_138773.2:c.1147T>C	NP_620128.1:p.Phe383Leu
NM_001303249.2:c.904T>C	NP_001290178.1:p.Phe302Leu
NM_001303250.2:c.874T>C	NP_001290179.1:p.Phe292Leu
NM_138773.3:c.1147T>C	NP_620128.1:p.Phe383Leu
NR_138151.1:n.1421T>C
NM_138773.4:c.1147T>C MANE Select	NP_620128.1:p.Phe383Leu
NM_001303249.3:c.904T>C	NP_001290178.1:p.Phe302Leu
NM_001303250.3:c.874T>C	NP_001290179.1:p.Phe292Leu
NR_138151.2:n.1386T>C