Canonical Allele Identifier: CA3364837

Gene: SLC25A46

Linked Data

• dbSNP Id: rs764328972
• ExAC: 5:110097528 A / T
• gnomAD v2: 5-110097528-A-T
• gnomAD v3: 5-110761828-A-T
• gnomAD v4: 5-110761828-A-T
• MyVariant Identifiers: chr5:g.110097528A>T (hg19) ; chr5:g.110761828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761828A>T , CM000667.2:g.110761828A>T	GRCh38
NC_000005.9:g.110097528A>T , CM000667.1:g.110097528A>T	GRCh37
NC_000005.8:g.110125427A>T	NCBI36
NG_051334.1:g.28693A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.*46A>T MANE Select	ENSP00000348211.3:n.*46A>T
ENST00000355943.7:c.*46A>T	ENSP00000348211.3:n.*46A>T
ENST00000447245.6:c.*46A>T	ENSP00000399717.2:n.*46A>T
ENST00000504098.1:c.*46A>T	ENSP00000425708.1:n.*46A>T
ENST00000509432.1:c.*46A>T	ENSP00000426604.1:n.*46A>T
ENST00000513706.2:n.2903A>T
ENST00000513807.5:c.*46A>T	ENSP00000421134.1:n.*46A>T
NM_001303249.1:c.*46A>T	NP_001290178.1:n.*46A>T
NM_001303250.1:c.*46A>T	NP_001290179.1:n.*46A>T
NM_138773.2:c.*46A>T	NP_620128.1:n.*46A>T
NM_001303249.2:c.*46A>T	NP_001290178.1:n.*46A>T
NM_001303250.2:c.*46A>T	NP_001290179.1:n.*46A>T
NM_138773.3:c.*46A>T	NP_620128.1:n.*46A>T
NR_138151.1:n.1577A>T
NM_138773.4:c.*46A>T MANE Select	NP_620128.1:n.*46A>T
NM_001303249.3:c.*46A>T	NP_001290178.1:n.*46A>T
NM_001303250.3:c.*46A>T	NP_001290179.1:n.*46A>T
NR_138151.2:n.1542A>T