Canonical Allele Identifier: CA360698000

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 1060918
• ClinVar RCV Id: RCV001370417
• dbSNP Id: rs1365339601
• gnomAD v2: 5-110097481-G-C
• gnomAD v4: 5-110761781-G-C
• MyVariant Identifiers: chr5:g.110097481G>C (hg19) ; chr5:g.110761781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761781G>C , CM000667.2:g.110761781G>C	GRCh38
NC_000005.9:g.110097481G>C , CM000667.1:g.110097481G>C	GRCh37
NC_000005.8:g.110125380G>C	NCBI36
NG_051334.1:g.28646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1256G>C MANE Select	ENSP00000348211.3:p.Ter419Ser
ENST00000355943.7:c.1256G>C	ENSP00000348211.3:p.Ter419Ser
ENST00000447245.6:c.1013G>C	ENSP00000399717.2:p.Ter338Ser
ENST00000504098.1:c.818G>C	ENSP00000425708.1:p.Ter273Ser
ENST00000509432.1:c.617G>C	ENSP00000426604.1:p.Ter206Ser
ENST00000513706.2:n.2856G>C
ENST00000513807.5:c.770G>C	ENSP00000421134.1:p.Ter257Ser
NM_001303249.1:c.1013G>C	NP_001290178.1:p.Ter338Ser
NM_001303250.1:c.983G>C	NP_001290179.1:p.Ter328Ser
NM_138773.2:c.1256G>C	NP_620128.1:p.Ter419Ser
NM_001303249.2:c.1013G>C	NP_001290178.1:p.Ter338Ser
NM_001303250.2:c.983G>C	NP_001290179.1:p.Ter328Ser
NM_138773.3:c.1256G>C	NP_620128.1:p.Ter419Ser
NR_138151.1:n.1530G>C
NM_138773.4:c.1256G>C MANE Select	NP_620128.1:p.Ter419Ser
NM_001303249.3:c.1013G>C	NP_001290178.1:p.Ter338Ser
NM_001303250.3:c.983G>C	NP_001290179.1:p.Ter328Ser
NR_138151.2:n.1495G>C