Canonical Allele Identifier: CA445964607
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110097155G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761455G>A , CM000667.2:g.110761455G>A GRCh38
NC_000005.9:g.110097155G>A , CM000667.1:g.110097155G>A GRCh37
NC_000005.8:g.110125054G>A NCBI36
NG_051334.1:g.28320G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.930G>A MANE Select ENSP00000348211.3:p.Leu310=
ENST00000355943.7:c.930G>A ENSP00000348211.3:p.Leu310=
ENST00000447245.6:c.687G>A ENSP00000399717.2:p.Leu229=
ENST00000502462.6:n.1246G>A
ENST00000504098.1:c.492G>A ENSP00000425708.1:p.Leu164=
ENST00000509432.1:c.291G>A ENSP00000426604.1:p.Leu97=
ENST00000513706.2:n.2530G>A
ENST00000513807.5:c.444G>A ENSP00000421134.1:p.Leu148=
NM_001303249.1:c.687G>A NP_001290178.1:p.Leu229=
NM_001303250.1:c.657G>A NP_001290179.1:p.Leu219=
NM_138773.2:c.930G>A NP_620128.1:p.Leu310=
NM_001303249.2:c.687G>A NP_001290178.1:p.Leu229=
NM_001303250.2:c.657G>A NP_001290179.1:p.Leu219=
NM_138773.3:c.930G>A NP_620128.1:p.Leu310=
NR_138151.1:n.1204G>A
NM_138773.4:c.930G>A MANE Select NP_620128.1:p.Leu310=
NM_001303249.3:c.687G>A NP_001290178.1:p.Leu229=
NM_001303250.3:c.657G>A NP_001290179.1:p.Leu219=
NR_138151.2:n.1169G>A