Canonical Allele Identifier: CA360696487

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097148G>T (hg19) ; chr5:g.110761448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761448G>T , CM000667.2:g.110761448G>T	GRCh38
NC_000005.9:g.110097148G>T , CM000667.1:g.110097148G>T	GRCh37
NC_000005.8:g.110125047G>T	NCBI36
NG_051334.1:g.28313G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.923G>T MANE Select	ENSP00000348211.3:p.Ser308Ile
ENST00000355943.7:c.923G>T	ENSP00000348211.3:p.Ser308Ile
ENST00000447245.6:c.680G>T	ENSP00000399717.2:p.Ser227Ile
ENST00000502462.6:n.1239G>T
ENST00000504098.1:c.485G>T	ENSP00000425708.1:p.Ser162Ile
ENST00000509432.1:c.284G>T	ENSP00000426604.1:p.Ser95Ile
ENST00000513706.2:n.2523G>T
ENST00000513807.5:c.437G>T	ENSP00000421134.1:p.Ser146Ile
NM_001303249.1:c.680G>T	NP_001290178.1:p.Ser227Ile
NM_001303250.1:c.650G>T	NP_001290179.1:p.Ser217Ile
NM_138773.2:c.923G>T	NP_620128.1:p.Ser308Ile
NM_001303249.2:c.680G>T	NP_001290178.1:p.Ser227Ile
NM_001303250.2:c.650G>T	NP_001290179.1:p.Ser217Ile
NM_138773.3:c.923G>T	NP_620128.1:p.Ser308Ile
NR_138151.1:n.1197G>T
NM_138773.4:c.923G>T MANE Select	NP_620128.1:p.Ser308Ile
NM_001303249.3:c.680G>T	NP_001290178.1:p.Ser227Ile
NM_001303250.3:c.650G>T	NP_001290179.1:p.Ser217Ile
NR_138151.2:n.1162G>T