Canonical Allele Identifier: CA360697930

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097466T>A (hg19) ; chr5:g.110761766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761766T>A , CM000667.2:g.110761766T>A	GRCh38
NC_000005.9:g.110097466T>A , CM000667.1:g.110097466T>A	GRCh37
NC_000005.8:g.110125365T>A	NCBI36
NG_051334.1:g.28631T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1241T>A MANE Select	ENSP00000348211.3:p.Leu414His
ENST00000355943.7:c.1241T>A	ENSP00000348211.3:p.Leu414His
ENST00000447245.6:c.998T>A	ENSP00000399717.2:p.Leu333His
ENST00000504098.1:c.803T>A	ENSP00000425708.1:p.Leu268His
ENST00000509432.1:c.602T>A	ENSP00000426604.1:p.Leu201His
ENST00000513706.2:n.2841T>A
ENST00000513807.5:c.755T>A	ENSP00000421134.1:p.Leu252His
NM_001303249.1:c.998T>A	NP_001290178.1:p.Leu333His
NM_001303250.1:c.968T>A	NP_001290179.1:p.Leu323His
NM_138773.2:c.1241T>A	NP_620128.1:p.Leu414His
NM_001303249.2:c.998T>A	NP_001290178.1:p.Leu333His
NM_001303250.2:c.968T>A	NP_001290179.1:p.Leu323His
NM_138773.3:c.1241T>A	NP_620128.1:p.Leu414His
NR_138151.1:n.1515T>A
NM_138773.4:c.1241T>A MANE Select	NP_620128.1:p.Leu414His
NM_001303249.3:c.998T>A	NP_001290178.1:p.Leu333His
NM_001303250.3:c.968T>A	NP_001290179.1:p.Leu323His
NR_138151.2:n.1480T>A