Canonical Allele Identifier: CA513188139

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19165303C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177790C>G , CM000684.2:g.19177790C>G	GRCh38
NC_000022.10:g.19165303C>G , CM000684.1:g.19165303C>G	GRCh37
NC_000022.9:g.17545303C>G	NCBI36
NG_033805.1:g.118927G>C
NG_033863.1:g.6074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.378G>C MANE Select	ENSP00000215882.5:p.Leu126=
ENST00000215882.9:c.378G>C	ENSP00000215882.5:p.Leu126=
ENST00000451283.5:c.69G>C	ENSP00000401480.1:p.Leu23=
ENST00000461267.1:n.524G>C
ENST00000470922.5:n.520G>C
NM_001256534.1:c.399G>C	NP_001243463.1:p.Leu133=
NM_001287387.1:c.69G>C	NP_001274316.1:p.Leu23=
NM_005984.4:c.378G>C	NP_005975.1:p.Leu126=
NR_046298.2:n.492+152G>C
NM_005984.5:c.378G>C MANE Select	NP_005975.1:p.Leu126=
NM_001256534.2:c.399G>C	NP_001243463.1:p.Leu133=
NM_001287387.2:c.69G>C	NP_001274316.1:p.Leu23=
NR_046298.3:n.365+152G>C