Canonical Allele Identifier: CA513188082
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19164375C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176862C>G , CM000684.2:g.19176862C>G GRCh38
NC_000022.10:g.19164375C>G , CM000684.1:g.19164375C>G GRCh37
NC_000022.9:g.17544375C>G NCBI36
NG_033863.1:g.7002G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.615G>C MANE Select ENSP00000215882.5:p.Leu205=
ENST00000215882.9:c.615G>C ENSP00000215882.5:p.Leu205=
ENST00000451283.5:c.306G>C ENSP00000401480.1:p.Leu102=
ENST00000461267.1:n.761G>C
ENST00000470922.5:n.757G>C
NM_001256534.1:c.636G>C NP_001243463.1:p.Leu212=
NM_001287387.1:c.306G>C NP_001274316.1:p.Leu102=
NM_005984.4:c.615G>C NP_005975.1:p.Leu205=
NR_046298.2:n.666G>C
NM_005984.5:c.615G>C MANE Select NP_005975.1:p.Leu205=
NM_001256534.2:c.636G>C NP_001243463.1:p.Leu212=
NM_001287387.2:c.306G>C NP_001274316.1:p.Leu102=
NR_046298.3:n.539G>C