Canonical Allele Identifier: CA360696047

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096939G>C (hg19) ; chr5:g.110761239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761239G>C , CM000667.2:g.110761239G>C	GRCh38
NC_000005.9:g.110096939G>C , CM000667.1:g.110096939G>C	GRCh37
NC_000005.8:g.110124838G>C	NCBI36
NG_051334.1:g.28104G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.714G>C MANE Select	ENSP00000348211.3:p.Glu238Asp
ENST00000355943.7:c.714G>C	ENSP00000348211.3:p.Glu238Asp
ENST00000447245.6:c.679-208G>C	ENSP00000399717.2:n.679-208G>C
ENST00000502462.6:n.1030G>C
ENST00000504098.1:c.276G>C	ENSP00000425708.1:p.Glu92Asp
ENST00000509432.1:c.75G>C	ENSP00000426604.1:p.Glu25Asp
ENST00000513706.2:n.2314G>C
ENST00000513807.5:c.228G>C	ENSP00000421134.1:p.Glu76Asp
NM_001303249.1:c.679-208G>C	NP_001290178.1:n.679-208G>C
NM_001303250.1:c.441G>C	NP_001290179.1:p.Glu147Asp
NM_138773.2:c.714G>C	NP_620128.1:p.Glu238Asp
NM_001303249.2:c.679-208G>C	NP_001290178.1:n.679-208G>C
NM_001303250.2:c.441G>C	NP_001290179.1:p.Glu147Asp
NM_138773.3:c.714G>C	NP_620128.1:p.Glu238Asp
NR_138151.1:n.988G>C
NM_138773.4:c.714G>C MANE Select	NP_620128.1:p.Glu238Asp
NM_001303249.3:c.679-208G>C	NP_001290178.1:n.679-208G>C
NM_001303250.3:c.441G>C	NP_001290179.1:p.Glu147Asp
NR_138151.2:n.953G>C