Canonical Allele Identifier: CA3364775

Gene: SLC25A46

Linked Data

• dbSNP Id: rs747759027
• ExAC: 5:110097151 T / G
• gnomAD v2: 5-110097151-T-G
• gnomAD v3: 5-110761451-T-G
• gnomAD v4: 5-110761451-T-G
• MyVariant Identifiers: chr5:g.110097151T>G (hg19) ; chr5:g.110761451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761451T>G , CM000667.2:g.110761451T>G	GRCh38
NC_000005.9:g.110097151T>G , CM000667.1:g.110097151T>G	GRCh37
NC_000005.8:g.110125050T>G	NCBI36
NG_051334.1:g.28316T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.926T>G MANE Select	ENSP00000348211.3:p.Met309Arg
ENST00000355943.7:c.926T>G	ENSP00000348211.3:p.Met309Arg
ENST00000447245.6:c.683T>G	ENSP00000399717.2:p.Met228Arg
ENST00000502462.6:n.1242T>G
ENST00000504098.1:c.488T>G	ENSP00000425708.1:p.Met163Arg
ENST00000509432.1:c.287T>G	ENSP00000426604.1:p.Met96Arg
ENST00000513706.2:n.2526T>G
ENST00000513807.5:c.440T>G	ENSP00000421134.1:p.Met147Arg
NM_001303249.1:c.683T>G	NP_001290178.1:p.Met228Arg
NM_001303250.1:c.653T>G	NP_001290179.1:p.Met218Arg
NM_138773.2:c.926T>G	NP_620128.1:p.Met309Arg
NM_001303249.2:c.683T>G	NP_001290178.1:p.Met228Arg
NM_001303250.2:c.653T>G	NP_001290179.1:p.Met218Arg
NM_138773.3:c.926T>G	NP_620128.1:p.Met309Arg
NR_138151.1:n.1200T>G
NM_138773.4:c.926T>G MANE Select	NP_620128.1:p.Met309Arg
NM_001303249.3:c.683T>G	NP_001290178.1:p.Met228Arg
NM_001303250.3:c.653T>G	NP_001290179.1:p.Met218Arg
NR_138151.2:n.1165T>G