Canonical Allele Identifier: CA360697785

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761727-C-A
• MyVariant Identifiers: chr5:g.110097427C>A (hg19) ; chr5:g.110761727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761727C>A , CM000667.2:g.110761727C>A	GRCh38
NC_000005.9:g.110097427C>A , CM000667.1:g.110097427C>A	GRCh37
NC_000005.8:g.110125326C>A	NCBI36
NG_051334.1:g.28592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1202C>A MANE Select	ENSP00000348211.3:p.Ala401Asp
ENST00000355943.7:c.1202C>A	ENSP00000348211.3:p.Ala401Asp
ENST00000447245.6:c.959C>A	ENSP00000399717.2:p.Ala320Asp
ENST00000504098.1:c.764C>A	ENSP00000425708.1:p.Ala255Asp
ENST00000509432.1:c.563C>A	ENSP00000426604.1:p.Ala188Asp
ENST00000513706.2:n.2802C>A
ENST00000513807.5:c.716C>A	ENSP00000421134.1:p.Ala239Asp
NM_001303249.1:c.959C>A	NP_001290178.1:p.Ala320Asp
NM_001303250.1:c.929C>A	NP_001290179.1:p.Ala310Asp
NM_138773.2:c.1202C>A	NP_620128.1:p.Ala401Asp
NM_001303249.2:c.959C>A	NP_001290178.1:p.Ala320Asp
NM_001303250.2:c.929C>A	NP_001290179.1:p.Ala310Asp
NM_138773.3:c.1202C>A	NP_620128.1:p.Ala401Asp
NR_138151.1:n.1476C>A
NM_138773.4:c.1202C>A MANE Select	NP_620128.1:p.Ala401Asp
NM_001303249.3:c.959C>A	NP_001290178.1:p.Ala320Asp
NM_001303250.3:c.929C>A	NP_001290179.1:p.Ala310Asp
NR_138151.2:n.1441C>A