Canonical Allele Identifier: CA513188345
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19164106A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176593A>T , CM000684.2:g.19176593A>T GRCh38
NC_000022.10:g.19164106A>T , CM000684.1:g.19164106A>T GRCh37
NC_000022.9:g.17544106A>T NCBI36
NG_033863.1:g.7271T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.732T>A MANE Select ENSP00000215882.5:p.Ile244=
ENST00000215882.9:c.732T>A ENSP00000215882.5:p.Ile244=
ENST00000451283.5:c.423T>A ENSP00000401480.1:p.Ile141=
ENST00000470922.5:n.874T>A
NM_001256534.1:c.753T>A NP_001243463.1:p.Ile251=
NM_001287387.1:c.423T>A NP_001274316.1:p.Ile141=
NM_005984.4:c.732T>A NP_005975.1:p.Ile244=
NR_046298.2:n.783T>A
NM_005984.5:c.732T>A MANE Select NP_005975.1:p.Ile244=
NM_001256534.2:c.753T>A NP_001243463.1:p.Ile251=
NM_001287387.2:c.423T>A NP_001274316.1:p.Ile141=
NR_046298.3:n.656T>A