Canonical Allele Identifier: CA360697494

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761661-A-C
• MyVariant Identifiers: chr5:g.110097361A>C (hg19) ; chr5:g.110761661A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761661A>C , CM000667.2:g.110761661A>C	GRCh38
NC_000005.9:g.110097361A>C , CM000667.1:g.110097361A>C	GRCh37
NC_000005.8:g.110125260A>C	NCBI36
NG_051334.1:g.28526A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1136A>C MANE Select	ENSP00000348211.3:p.Glu379Ala
ENST00000355943.7:c.1136A>C	ENSP00000348211.3:p.Glu379Ala
ENST00000447245.6:c.893A>C	ENSP00000399717.2:p.Glu298Ala
ENST00000504098.1:c.698A>C	ENSP00000425708.1:p.Glu233Ala
ENST00000509432.1:c.497A>C	ENSP00000426604.1:p.Glu166Ala
ENST00000513706.2:n.2736A>C
ENST00000513807.5:c.650A>C	ENSP00000421134.1:p.Glu217Ala
NM_001303249.1:c.893A>C	NP_001290178.1:p.Glu298Ala
NM_001303250.1:c.863A>C	NP_001290179.1:p.Glu288Ala
NM_138773.2:c.1136A>C	NP_620128.1:p.Glu379Ala
NM_001303249.2:c.893A>C	NP_001290178.1:p.Glu298Ala
NM_001303250.2:c.863A>C	NP_001290179.1:p.Glu288Ala
NM_138773.3:c.1136A>C	NP_620128.1:p.Glu379Ala
NR_138151.1:n.1410A>C
NM_138773.4:c.1136A>C MANE Select	NP_620128.1:p.Glu379Ala
NM_001303249.3:c.893A>C	NP_001290178.1:p.Glu298Ala
NM_001303250.3:c.863A>C	NP_001290179.1:p.Glu288Ala
NR_138151.2:n.1375A>C