Canonical Allele Identifier: CA084038
Gene: SLC25A32 HGNC NCBI

Linked Data

ClinVar Variation Id: 223106
dbSNP Id: rs142329098

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.103403276C>T , CM000670.2:g.103403276C>T GRCh38
NC_000008.10:g.104415504C>T , CM000670.1:g.104415504C>T GRCh37
NC_000008.9:g.104484680C>T NCBI36
NG_047200.1:g.17060G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000707124.1:c.509G>A ENSP00000516752.1:p.Arg170His
ENST00000297578.9:c.440G>A MANE Select ENSP00000297578.4:p.Arg147His
ENST00000649416.1:c.287G>A ENSP00000496817.1:p.Arg96His
ENST00000297578.8:c.440G>A ENSP00000297578.4:p.Arg147His
ENST00000521645.5:c.392-1222G>A ENSP00000430989.1:n.392-1222G>A
ENST00000523256.6:c.306-1222G>A ENSP00000427737.1:n.306-1222G>A
ENST00000523866.1:c.354G>A ENSP00000430371.1:p.Ser118=
NM_030780.4:c.440G>A NP_110407.2:p.Arg147His
NR_102337.1:n.752G>A
NR_102338.1:n.947G>A
NM_030780.5:c.440G>A MANE Select NP_110407.2:p.Arg147His
NR_102337.2:n.524G>A
NR_102338.2:n.719G>A