Canonical Allele Identifier: CA360696172

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096998T>C (hg19) ; chr5:g.110761298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761298T>C , CM000667.2:g.110761298T>C	GRCh38
NC_000005.9:g.110096998T>C , CM000667.1:g.110096998T>C	GRCh37
NC_000005.8:g.110124897T>C	NCBI36
NG_051334.1:g.28163T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.773T>C MANE Select	ENSP00000348211.3:p.Leu258Pro
ENST00000355943.7:c.773T>C	ENSP00000348211.3:p.Leu258Pro
ENST00000447245.6:c.679-149T>C	ENSP00000399717.2:n.679-149T>C
ENST00000502462.6:n.1089T>C
ENST00000504098.1:c.335T>C	ENSP00000425708.1:p.Leu112Pro
ENST00000509432.1:c.134T>C	ENSP00000426604.1:p.Leu45Pro
ENST00000513706.2:n.2373T>C
ENST00000513807.5:c.287T>C	ENSP00000421134.1:p.Leu96Pro
NM_001303249.1:c.679-149T>C	NP_001290178.1:n.679-149T>C
NM_001303250.1:c.500T>C	NP_001290179.1:p.Leu167Pro
NM_138773.2:c.773T>C	NP_620128.1:p.Leu258Pro
NM_001303249.2:c.679-149T>C	NP_001290178.1:n.679-149T>C
NM_001303250.2:c.500T>C	NP_001290179.1:p.Leu167Pro
NM_138773.3:c.773T>C	NP_620128.1:p.Leu258Pro
NR_138151.1:n.1047T>C
NM_138773.4:c.773T>C MANE Select	NP_620128.1:p.Leu258Pro
NM_001303249.3:c.679-149T>C	NP_001290178.1:n.679-149T>C
NM_001303250.3:c.500T>C	NP_001290179.1:p.Leu167Pro
NR_138151.2:n.1012T>C