Canonical Allele Identifier: CA125344949

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1036640059
• gnomAD v4: 5-110761850-G-A
• MyVariant Identifiers: chr5:g.110097550G>A (hg19) ; chr5:g.110761850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761850G>A , CM000667.2:g.110761850G>A	GRCh38
NC_000005.9:g.110097550G>A , CM000667.1:g.110097550G>A	GRCh37
NC_000005.8:g.110125449G>A	NCBI36
NG_051334.1:g.28715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.*68G>A MANE Select	ENSP00000348211.3:n.*68G>A
ENST00000355943.7:c.*68G>A	ENSP00000348211.3:n.*68G>A
ENST00000447245.6:c.*68G>A	ENSP00000399717.2:n.*68G>A
ENST00000504098.1:c.*68G>A	ENSP00000425708.1:n.*68G>A
ENST00000509432.1:c.*68G>A	ENSP00000426604.1:n.*68G>A
ENST00000513706.2:n.2925G>A
ENST00000513807.5:c.*68G>A	ENSP00000421134.1:n.*68G>A
NM_001303249.1:c.*68G>A	NP_001290178.1:n.*68G>A
NM_001303250.1:c.*68G>A	NP_001290179.1:n.*68G>A
NM_138773.2:c.*68G>A	NP_620128.1:n.*68G>A
NM_001303249.2:c.*68G>A	NP_001290178.1:n.*68G>A
NM_001303250.2:c.*68G>A	NP_001290179.1:n.*68G>A
NM_138773.3:c.*68G>A	NP_620128.1:n.*68G>A
NR_138151.1:n.1599G>A
NM_138773.4:c.*68G>A MANE Select	NP_620128.1:n.*68G>A
NM_001303249.3:c.*68G>A	NP_001290178.1:n.*68G>A
NM_001303250.3:c.*68G>A	NP_001290179.1:n.*68G>A
NR_138151.2:n.1564G>A