Canonical Allele Identifier: CA360697913

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761760-C-G
• MyVariant Identifiers: chr5:g.110097460C>G (hg19) ; chr5:g.110761760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761760C>G , CM000667.2:g.110761760C>G	GRCh38
NC_000005.9:g.110097460C>G , CM000667.1:g.110097460C>G	GRCh37
NC_000005.8:g.110125359C>G	NCBI36
NG_051334.1:g.28625C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1235C>G MANE Select	ENSP00000348211.3:p.Thr412Arg
ENST00000355943.7:c.1235C>G	ENSP00000348211.3:p.Thr412Arg
ENST00000447245.6:c.992C>G	ENSP00000399717.2:p.Thr331Arg
ENST00000504098.1:c.797C>G	ENSP00000425708.1:p.Thr266Arg
ENST00000509432.1:c.596C>G	ENSP00000426604.1:p.Thr199Arg
ENST00000513706.2:n.2835C>G
ENST00000513807.5:c.749C>G	ENSP00000421134.1:p.Thr250Arg
NM_001303249.1:c.992C>G	NP_001290178.1:p.Thr331Arg
NM_001303250.1:c.962C>G	NP_001290179.1:p.Thr321Arg
NM_138773.2:c.1235C>G	NP_620128.1:p.Thr412Arg
NM_001303249.2:c.992C>G	NP_001290178.1:p.Thr331Arg
NM_001303250.2:c.962C>G	NP_001290179.1:p.Thr321Arg
NM_138773.3:c.1235C>G	NP_620128.1:p.Thr412Arg
NR_138151.1:n.1509C>G
NM_138773.4:c.1235C>G MANE Select	NP_620128.1:p.Thr412Arg
NM_001303249.3:c.992C>G	NP_001290178.1:p.Thr331Arg
NM_001303250.3:c.962C>G	NP_001290179.1:p.Thr321Arg
NR_138151.2:n.1474C>G