Canonical Allele Identifier: CA360697663

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097397C>A (hg19) ; chr5:g.110761697C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761697C>A , CM000667.2:g.110761697C>A	GRCh38
NC_000005.9:g.110097397C>A , CM000667.1:g.110097397C>A	GRCh37
NC_000005.8:g.110125296C>A	NCBI36
NG_051334.1:g.28562C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1172C>A MANE Select	ENSP00000348211.3:p.Ala391Asp
ENST00000355943.7:c.1172C>A	ENSP00000348211.3:p.Ala391Asp
ENST00000447245.6:c.929C>A	ENSP00000399717.2:p.Ala310Asp
ENST00000504098.1:c.734C>A	ENSP00000425708.1:p.Ala245Asp
ENST00000509432.1:c.533C>A	ENSP00000426604.1:p.Ala178Asp
ENST00000513706.2:n.2772C>A
ENST00000513807.5:c.686C>A	ENSP00000421134.1:p.Ala229Asp
NM_001303249.1:c.929C>A	NP_001290178.1:p.Ala310Asp
NM_001303250.1:c.899C>A	NP_001290179.1:p.Ala300Asp
NM_138773.2:c.1172C>A	NP_620128.1:p.Ala391Asp
NM_001303249.2:c.929C>A	NP_001290178.1:p.Ala310Asp
NM_001303250.2:c.899C>A	NP_001290179.1:p.Ala300Asp
NM_138773.3:c.1172C>A	NP_620128.1:p.Ala391Asp
NR_138151.1:n.1446C>A
NM_138773.4:c.1172C>A MANE Select	NP_620128.1:p.Ala391Asp
NM_001303249.3:c.929C>A	NP_001290178.1:p.Ala310Asp
NM_001303250.3:c.899C>A	NP_001290179.1:p.Ala300Asp
NR_138151.2:n.1411C>A