Canonical Allele Identifier: CA125344939

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 1378646
• ClinVar RCV Id: RCV001881260
• dbSNP Id: rs1019423413
• gnomAD v2: 5-110097332-G-A
• gnomAD v4: 5-110761632-G-A
• MyVariant Identifiers: chr5:g.110097332G>A (hg19) ; chr5:g.110761632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761632G>A , CM000667.2:g.110761632G>A	GRCh38
NC_000005.9:g.110097332G>A , CM000667.1:g.110097332G>A	GRCh37
NC_000005.8:g.110125231G>A	NCBI36
NG_051334.1:g.28497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1107G>A MANE Select	ENSP00000348211.3:p.Met369Ile
ENST00000355943.7:c.1107G>A	ENSP00000348211.3:p.Met369Ile
ENST00000447245.6:c.864G>A	ENSP00000399717.2:p.Met288Ile
ENST00000502462.6:n.1423G>A
ENST00000504098.1:c.669G>A	ENSP00000425708.1:p.Met223Ile
ENST00000509432.1:c.468G>A	ENSP00000426604.1:p.Met156Ile
ENST00000513706.2:n.2707G>A
ENST00000513807.5:c.621G>A	ENSP00000421134.1:p.Met207Ile
NM_001303249.1:c.864G>A	NP_001290178.1:p.Met288Ile
NM_001303250.1:c.834G>A	NP_001290179.1:p.Met278Ile
NM_138773.2:c.1107G>A	NP_620128.1:p.Met369Ile
NM_001303249.2:c.864G>A	NP_001290178.1:p.Met288Ile
NM_001303250.2:c.834G>A	NP_001290179.1:p.Met278Ile
NM_138773.3:c.1107G>A	NP_620128.1:p.Met369Ile
NR_138151.1:n.1381G>A
NM_138773.4:c.1107G>A MANE Select	NP_620128.1:p.Met369Ile
NM_001303249.3:c.864G>A	NP_001290178.1:p.Met288Ile
NM_001303250.3:c.834G>A	NP_001290179.1:p.Met278Ile
NR_138151.2:n.1346G>A