Canonical Allele Identifier: CA360697947

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097470A>C (hg19) ; chr5:g.110761770A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761770A>C , CM000667.2:g.110761770A>C	GRCh38
NC_000005.9:g.110097470A>C , CM000667.1:g.110097470A>C	GRCh37
NC_000005.8:g.110125369A>C	NCBI36
NG_051334.1:g.28635A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1245A>C MANE Select	ENSP00000348211.3:p.Gln415His
ENST00000355943.7:c.1245A>C	ENSP00000348211.3:p.Gln415His
ENST00000447245.6:c.1002A>C	ENSP00000399717.2:p.Gln334His
ENST00000504098.1:c.807A>C	ENSP00000425708.1:p.Gln269His
ENST00000509432.1:c.606A>C	ENSP00000426604.1:p.Gln202His
ENST00000513706.2:n.2845A>C
ENST00000513807.5:c.759A>C	ENSP00000421134.1:p.Gln253His
NM_001303249.1:c.1002A>C	NP_001290178.1:p.Gln334His
NM_001303250.1:c.972A>C	NP_001290179.1:p.Gln324His
NM_138773.2:c.1245A>C	NP_620128.1:p.Gln415His
NM_001303249.2:c.1002A>C	NP_001290178.1:p.Gln334His
NM_001303250.2:c.972A>C	NP_001290179.1:p.Gln324His
NM_138773.3:c.1245A>C	NP_620128.1:p.Gln415His
NR_138151.1:n.1519A>C
NM_138773.4:c.1245A>C MANE Select	NP_620128.1:p.Gln415His
NM_001303249.3:c.1002A>C	NP_001290178.1:p.Gln334His
NM_001303250.3:c.972A>C	NP_001290179.1:p.Gln324His
NR_138151.2:n.1484A>C