Canonical Allele Identifier: CA562219402

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 1584561
• ClinVar RCV Id: RCV002102683
• dbSNP Id: rs1329331980
• gnomAD v2: 5-110096892-T-C
• gnomAD v3: 5-110761192-T-C
• gnomAD v4: 5-110761192-T-C
• MyVariant Identifiers: chr5:g.110096892T>C (hg19) ; chr5:g.110761192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761192T>C , CM000667.2:g.110761192T>C	GRCh38
NC_000005.9:g.110096892T>C , CM000667.1:g.110096892T>C	GRCh37
NC_000005.8:g.110124791T>C	NCBI36
NG_051334.1:g.28057T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.679-12T>C MANE Select	ENSP00000348211.3:n.679-12T>C
ENST00000355943.7:c.679-12T>C	ENSP00000348211.3:n.679-12T>C
ENST00000447245.6:c.679-255T>C	ENSP00000399717.2:n.679-255T>C
ENST00000502462.6:n.995-12T>C
ENST00000504098.1:c.241-12T>C	ENSP00000425708.1:n.241-12T>C
ENST00000509432.1:c.40-12T>C	ENSP00000426604.1:n.40-12T>C
ENST00000513706.2:n.2279-12T>C
ENST00000513807.5:c.193-12T>C	ENSP00000421134.1:n.193-12T>C
NM_001303249.1:c.679-255T>C	NP_001290178.1:n.679-255T>C
NM_001303250.1:c.406-12T>C	NP_001290179.1:n.406-12T>C
NM_138773.2:c.679-12T>C	NP_620128.1:n.679-12T>C
NM_001303249.2:c.679-255T>C	NP_001290178.1:n.679-255T>C
NM_001303250.2:c.406-12T>C	NP_001290179.1:n.406-12T>C
NM_138773.3:c.679-12T>C	NP_620128.1:n.679-12T>C
NR_138151.1:n.953-12T>C
NM_138773.4:c.679-12T>C MANE Select	NP_620128.1:n.679-12T>C
NM_001303249.3:c.679-255T>C	NP_001290178.1:n.679-255T>C
NM_001303250.3:c.406-12T>C	NP_001290179.1:n.406-12T>C
NR_138151.2:n.918-12T>C