Canonical Allele Identifier: CA562219357

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1561610393
• gnomAD v2: 5-110097514-G-GAT
• gnomAD v4: 5-110761814-G-GAT
• MyVariant Identifiers: chr5:g.110097514_110097515insAT (hg19) ; chr5:g.110761814_110761815insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761818_110761819dup , CM000667.2:g.110761818_110761819dup	GRCh38
NC_000005.9:g.110097518_110097519dup , CM000667.1:g.110097518_110097519dup	GRCh37
NC_000005.8:g.110125417_110125418dup	NCBI36
NG_051334.1:g.28683_28684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.*36_*37dup MANE Select	ENSP00000348211.3:n.*36_*37dup
ENST00000355943.7:c.*36_*37dup	ENSP00000348211.3:n.*36_*37dup
ENST00000447245.6:c.*36_*37dup	ENSP00000399717.2:n.*36_*37dup
ENST00000504098.1:c.*36_*37dup	ENSP00000425708.1:n.*36_*37dup
ENST00000509432.1:c.*36_*37dup	ENSP00000426604.1:n.*36_*37dup
ENST00000513706.2:n.2893_2894dup
ENST00000513807.5:c.*36_*37dup	ENSP00000421134.1:n.*36_*37dup
NM_001303249.1:c.*36_*37dup	NP_001290178.1:n.*36_*37dup
NM_001303250.1:c.*36_*37dup	NP_001290179.1:n.*36_*37dup
NM_138773.2:c.*36_*37dup	NP_620128.1:n.*36_*37dup
NM_001303249.2:c.*36_*37dup	NP_001290178.1:n.*36_*37dup
NM_001303250.2:c.*36_*37dup	NP_001290179.1:n.*36_*37dup
NM_138773.3:c.*36_*37dup	NP_620128.1:n.*36_*37dup
NR_138151.1:n.1567_1568dup
NM_138773.4:c.*36_*37dup MANE Select	NP_620128.1:n.*36_*37dup
NM_001303249.3:c.*36_*37dup	NP_001290178.1:n.*36_*37dup
NM_001303250.3:c.*36_*37dup	NP_001290179.1:n.*36_*37dup
NR_138151.2:n.1532_1533dup