Canonical Allele Identifier: CA360697847

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761742-C-T
• MyVariant Identifiers: chr5:g.110097442C>T (hg19) ; chr5:g.110761742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761742C>T , CM000667.2:g.110761742C>T	GRCh38
NC_000005.9:g.110097442C>T , CM000667.1:g.110097442C>T	GRCh37
NC_000005.8:g.110125341C>T	NCBI36
NG_051334.1:g.28607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1217C>T MANE Select	ENSP00000348211.3:p.Thr406Ile
ENST00000355943.7:c.1217C>T	ENSP00000348211.3:p.Thr406Ile
ENST00000447245.6:c.974C>T	ENSP00000399717.2:p.Thr325Ile
ENST00000504098.1:c.779C>T	ENSP00000425708.1:p.Thr260Ile
ENST00000509432.1:c.578C>T	ENSP00000426604.1:p.Thr193Ile
ENST00000513706.2:n.2817C>T
ENST00000513807.5:c.731C>T	ENSP00000421134.1:p.Thr244Ile
NM_001303249.1:c.974C>T	NP_001290178.1:p.Thr325Ile
NM_001303250.1:c.944C>T	NP_001290179.1:p.Thr315Ile
NM_138773.2:c.1217C>T	NP_620128.1:p.Thr406Ile
NM_001303249.2:c.974C>T	NP_001290178.1:p.Thr325Ile
NM_001303250.2:c.944C>T	NP_001290179.1:p.Thr315Ile
NM_138773.3:c.1217C>T	NP_620128.1:p.Thr406Ile
NR_138151.1:n.1491C>T
NM_138773.4:c.1217C>T MANE Select	NP_620128.1:p.Thr406Ile
NM_001303249.3:c.974C>T	NP_001290178.1:p.Thr325Ile
NM_001303250.3:c.944C>T	NP_001290179.1:p.Thr315Ile
NR_138151.2:n.1456C>T