Canonical Allele Identifier: CA360697415

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097348A>T (hg19) ; chr5:g.110761648A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761648A>T , CM000667.2:g.110761648A>T	GRCh38
NC_000005.9:g.110097348A>T , CM000667.1:g.110097348A>T	GRCh37
NC_000005.8:g.110125247A>T	NCBI36
NG_051334.1:g.28513A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1123A>T MANE Select	ENSP00000348211.3:p.Thr375Ser
ENST00000355943.7:c.1123A>T	ENSP00000348211.3:p.Thr375Ser
ENST00000447245.6:c.880A>T	ENSP00000399717.2:p.Thr294Ser
ENST00000502462.6:n.1439A>T
ENST00000504098.1:c.685A>T	ENSP00000425708.1:p.Thr229Ser
ENST00000509432.1:c.484A>T	ENSP00000426604.1:p.Thr162Ser
ENST00000513706.2:n.2723A>T
ENST00000513807.5:c.637A>T	ENSP00000421134.1:p.Thr213Ser
NM_001303249.1:c.880A>T	NP_001290178.1:p.Thr294Ser
NM_001303250.1:c.850A>T	NP_001290179.1:p.Thr284Ser
NM_138773.2:c.1123A>T	NP_620128.1:p.Thr375Ser
NM_001303249.2:c.880A>T	NP_001290178.1:p.Thr294Ser
NM_001303250.2:c.850A>T	NP_001290179.1:p.Thr284Ser
NM_138773.3:c.1123A>T	NP_620128.1:p.Thr375Ser
NR_138151.1:n.1397A>T
NM_138773.4:c.1123A>T MANE Select	NP_620128.1:p.Thr375Ser
NM_001303249.3:c.880A>T	NP_001290178.1:p.Thr294Ser
NM_001303250.3:c.850A>T	NP_001290179.1:p.Thr284Ser
NR_138151.2:n.1362A>T