Canonical Allele Identifier: CA360696511

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761460-C-G
• MyVariant Identifiers: chr5:g.110097160C>G (hg19) ; chr5:g.110761460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761460C>G , CM000667.2:g.110761460C>G	GRCh38
NC_000005.9:g.110097160C>G , CM000667.1:g.110097160C>G	GRCh37
NC_000005.8:g.110125059C>G	NCBI36
NG_051334.1:g.28325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.935C>G MANE Select	ENSP00000348211.3:p.Ala312Gly
ENST00000355943.7:c.935C>G	ENSP00000348211.3:p.Ala312Gly
ENST00000447245.6:c.692C>G	ENSP00000399717.2:p.Ala231Gly
ENST00000502462.6:n.1251C>G
ENST00000504098.1:c.497C>G	ENSP00000425708.1:p.Ala166Gly
ENST00000509432.1:c.296C>G	ENSP00000426604.1:p.Ala99Gly
ENST00000513706.2:n.2535C>G
ENST00000513807.5:c.449C>G	ENSP00000421134.1:p.Ala150Gly
NM_001303249.1:c.692C>G	NP_001290178.1:p.Ala231Gly
NM_001303250.1:c.662C>G	NP_001290179.1:p.Ala221Gly
NM_138773.2:c.935C>G	NP_620128.1:p.Ala312Gly
NM_001303249.2:c.692C>G	NP_001290178.1:p.Ala231Gly
NM_001303250.2:c.662C>G	NP_001290179.1:p.Ala221Gly
NM_138773.3:c.935C>G	NP_620128.1:p.Ala312Gly
NR_138151.1:n.1209C>G
NM_138773.4:c.935C>G MANE Select	NP_620128.1:p.Ala312Gly
NM_001303249.3:c.692C>G	NP_001290178.1:p.Ala231Gly
NM_001303250.3:c.662C>G	NP_001290179.1:p.Ala221Gly
NR_138151.2:n.1174C>G