Canonical Allele Identifier: CA360697841

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761741-A-T
• MyVariant Identifiers: chr5:g.110097441A>T (hg19) ; chr5:g.110761741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761741A>T , CM000667.2:g.110761741A>T	GRCh38
NC_000005.9:g.110097441A>T , CM000667.1:g.110097441A>T	GRCh37
NC_000005.8:g.110125340A>T	NCBI36
NG_051334.1:g.28606A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1216A>T MANE Select	ENSP00000348211.3:p.Thr406Ser
ENST00000355943.7:c.1216A>T	ENSP00000348211.3:p.Thr406Ser
ENST00000447245.6:c.973A>T	ENSP00000399717.2:p.Thr325Ser
ENST00000504098.1:c.778A>T	ENSP00000425708.1:p.Thr260Ser
ENST00000509432.1:c.577A>T	ENSP00000426604.1:p.Thr193Ser
ENST00000513706.2:n.2816A>T
ENST00000513807.5:c.730A>T	ENSP00000421134.1:p.Thr244Ser
NM_001303249.1:c.973A>T	NP_001290178.1:p.Thr325Ser
NM_001303250.1:c.943A>T	NP_001290179.1:p.Thr315Ser
NM_138773.2:c.1216A>T	NP_620128.1:p.Thr406Ser
NM_001303249.2:c.973A>T	NP_001290178.1:p.Thr325Ser
NM_001303250.2:c.943A>T	NP_001290179.1:p.Thr315Ser
NM_138773.3:c.1216A>T	NP_620128.1:p.Thr406Ser
NR_138151.1:n.1490A>T
NM_138773.4:c.1216A>T MANE Select	NP_620128.1:p.Thr406Ser
NM_001303249.3:c.973A>T	NP_001290178.1:p.Thr325Ser
NM_001303250.3:c.943A>T	NP_001290179.1:p.Thr315Ser
NR_138151.2:n.1455A>T