Canonical Allele Identifier: CA513188117
Gene: SLC25A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19164432G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176919G>C , CM000684.2:g.19176919G>C GRCh38
NC_000022.10:g.19164432G>C , CM000684.1:g.19164432G>C GRCh37
NC_000022.9:g.17544432G>C NCBI36
NG_033863.1:g.6945C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.558C>G MANE Select ENSP00000215882.5:p.Ala186=
ENST00000215882.9:c.558C>G ENSP00000215882.5:p.Ala186=
ENST00000451283.5:c.249C>G ENSP00000401480.1:p.Ala83=
ENST00000461267.1:n.704C>G
ENST00000470922.5:n.700C>G
NM_001256534.1:c.579C>G NP_001243463.1:p.Ala193=
NM_001287387.1:c.249C>G NP_001274316.1:p.Ala83=
NM_005984.4:c.558C>G NP_005975.1:p.Ala186=
NR_046298.2:n.609C>G
NM_005984.5:c.558C>G MANE Select NP_005975.1:p.Ala186=
NM_001256534.2:c.579C>G NP_001243463.1:p.Ala193=
NM_001287387.2:c.249C>G NP_001274316.1:p.Ala83=
NR_046298.3:n.482C>G