Canonical Allele Identifier: CA360697731

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097418T>G (hg19) ; chr5:g.110761718T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761718T>G , CM000667.2:g.110761718T>G	GRCh38
NC_000005.9:g.110097418T>G , CM000667.1:g.110097418T>G	GRCh37
NC_000005.8:g.110125317T>G	NCBI36
NG_051334.1:g.28583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1193T>G MANE Select	ENSP00000348211.3:p.Leu398Arg
ENST00000355943.7:c.1193T>G	ENSP00000348211.3:p.Leu398Arg
ENST00000447245.6:c.950T>G	ENSP00000399717.2:p.Leu317Arg
ENST00000504098.1:c.755T>G	ENSP00000425708.1:p.Leu252Arg
ENST00000509432.1:c.554T>G	ENSP00000426604.1:p.Leu185Arg
ENST00000513706.2:n.2793T>G
ENST00000513807.5:c.707T>G	ENSP00000421134.1:p.Leu236Arg
NM_001303249.1:c.950T>G	NP_001290178.1:p.Leu317Arg
NM_001303250.1:c.920T>G	NP_001290179.1:p.Leu307Arg
NM_138773.2:c.1193T>G	NP_620128.1:p.Leu398Arg
NM_001303249.2:c.950T>G	NP_001290178.1:p.Leu317Arg
NM_001303250.2:c.920T>G	NP_001290179.1:p.Leu307Arg
NM_138773.3:c.1193T>G	NP_620128.1:p.Leu398Arg
NR_138151.1:n.1467T>G
NM_138773.4:c.1193T>G MANE Select	NP_620128.1:p.Leu398Arg
NM_001303249.3:c.950T>G	NP_001290178.1:p.Leu317Arg
NM_001303250.3:c.920T>G	NP_001290179.1:p.Leu307Arg
NR_138151.2:n.1432T>G