Canonical Allele Identifier: CA360697475

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1800254805
• MyVariant Identifiers: chr5:g.110097358A>G (hg19) ; chr5:g.110761658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761658A>G , CM000667.2:g.110761658A>G	GRCh38
NC_000005.9:g.110097358A>G , CM000667.1:g.110097358A>G	GRCh37
NC_000005.8:g.110125257A>G	NCBI36
NG_051334.1:g.28523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1133A>G MANE Select	ENSP00000348211.3:p.Gln378Arg
ENST00000355943.7:c.1133A>G	ENSP00000348211.3:p.Gln378Arg
ENST00000447245.6:c.890A>G	ENSP00000399717.2:p.Gln297Arg
ENST00000504098.1:c.695A>G	ENSP00000425708.1:p.Gln232Arg
ENST00000509432.1:c.494A>G	ENSP00000426604.1:p.Gln165Arg
ENST00000513706.2:n.2733A>G
ENST00000513807.5:c.647A>G	ENSP00000421134.1:p.Gln216Arg
NM_001303249.1:c.890A>G	NP_001290178.1:p.Gln297Arg
NM_001303250.1:c.860A>G	NP_001290179.1:p.Gln287Arg
NM_138773.2:c.1133A>G	NP_620128.1:p.Gln378Arg
NM_001303249.2:c.890A>G	NP_001290178.1:p.Gln297Arg
NM_001303250.2:c.860A>G	NP_001290179.1:p.Gln287Arg
NM_138773.3:c.1133A>G	NP_620128.1:p.Gln378Arg
NR_138151.1:n.1407A>G
NM_138773.4:c.1133A>G MANE Select	NP_620128.1:p.Gln378Arg
NM_001303249.3:c.890A>G	NP_001290178.1:p.Gln297Arg
NM_001303250.3:c.860A>G	NP_001290179.1:p.Gln287Arg
NR_138151.2:n.1372A>G