Canonical Allele Identifier: CA360696494

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097153T>A (hg19) ; chr5:g.110761453T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761453T>A , CM000667.2:g.110761453T>A	GRCh38
NC_000005.9:g.110097153T>A , CM000667.1:g.110097153T>A	GRCh37
NC_000005.8:g.110125052T>A	NCBI36
NG_051334.1:g.28318T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.928T>A MANE Select	ENSP00000348211.3:p.Leu310Met
ENST00000355943.7:c.928T>A	ENSP00000348211.3:p.Leu310Met
ENST00000447245.6:c.685T>A	ENSP00000399717.2:p.Leu229Met
ENST00000502462.6:n.1244T>A
ENST00000504098.1:c.490T>A	ENSP00000425708.1:p.Leu164Met
ENST00000509432.1:c.289T>A	ENSP00000426604.1:p.Leu97Met
ENST00000513706.2:n.2528T>A
ENST00000513807.5:c.442T>A	ENSP00000421134.1:p.Leu148Met
NM_001303249.1:c.685T>A	NP_001290178.1:p.Leu229Met
NM_001303250.1:c.655T>A	NP_001290179.1:p.Leu219Met
NM_138773.2:c.928T>A	NP_620128.1:p.Leu310Met
NM_001303249.2:c.685T>A	NP_001290178.1:p.Leu229Met
NM_001303250.2:c.655T>A	NP_001290179.1:p.Leu219Met
NM_138773.3:c.928T>A	NP_620128.1:p.Leu310Met
NR_138151.1:n.1202T>A
NM_138773.4:c.928T>A MANE Select	NP_620128.1:p.Leu310Met
NM_001303249.3:c.685T>A	NP_001290178.1:p.Leu229Met
NM_001303250.3:c.655T>A	NP_001290179.1:p.Leu219Met
NR_138151.2:n.1167T>A