Canonical Allele Identifier: CA360697979

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097476C>A (hg19) ; chr5:g.110761776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761776C>A , CM000667.2:g.110761776C>A	GRCh38
NC_000005.9:g.110097476C>A , CM000667.1:g.110097476C>A	GRCh37
NC_000005.8:g.110125375C>A	NCBI36
NG_051334.1:g.28641C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1251C>A MANE Select	ENSP00000348211.3:p.Asn417Lys
ENST00000355943.7:c.1251C>A	ENSP00000348211.3:p.Asn417Lys
ENST00000447245.6:c.1008C>A	ENSP00000399717.2:p.Asn336Lys
ENST00000504098.1:c.813C>A	ENSP00000425708.1:p.Asn271Lys
ENST00000509432.1:c.612C>A	ENSP00000426604.1:p.Asn204Lys
ENST00000513706.2:n.2851C>A
ENST00000513807.5:c.765C>A	ENSP00000421134.1:p.Asn255Lys
NM_001303249.1:c.1008C>A	NP_001290178.1:p.Asn336Lys
NM_001303250.1:c.978C>A	NP_001290179.1:p.Asn326Lys
NM_138773.2:c.1251C>A	NP_620128.1:p.Asn417Lys
NM_001303249.2:c.1008C>A	NP_001290178.1:p.Asn336Lys
NM_001303250.2:c.978C>A	NP_001290179.1:p.Asn326Lys
NM_138773.3:c.1251C>A	NP_620128.1:p.Asn417Lys
NR_138151.1:n.1525C>A
NM_138773.4:c.1251C>A MANE Select	NP_620128.1:p.Asn417Lys
NM_001303249.3:c.1008C>A	NP_001290178.1:p.Asn336Lys
NM_001303250.3:c.978C>A	NP_001290179.1:p.Asn326Lys
NR_138151.2:n.1490C>A