Canonical Allele Identifier: CA513188093
Gene: SLC25A1 HGNC NCBI

Linked Data

dbSNP Id: rs1569129590
MyVariant Identifiers: chr22:g.19164396G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176883G>C , CM000684.2:g.19176883G>C GRCh38
NC_000022.10:g.19164396G>C , CM000684.1:g.19164396G>C GRCh37
NC_000022.9:g.17544396G>C NCBI36
NG_033863.1:g.6981C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.594C>G MANE Select ENSP00000215882.5:p.Arg198=
ENST00000215882.9:c.594C>G ENSP00000215882.5:p.Arg198=
ENST00000451283.5:c.285C>G ENSP00000401480.1:p.Arg95=
ENST00000461267.1:n.740C>G
ENST00000470922.5:n.736C>G
NM_001256534.1:c.615C>G NP_001243463.1:p.Arg205=
NM_001287387.1:c.285C>G NP_001274316.1:p.Arg95=
NM_005984.4:c.594C>G NP_005975.1:p.Arg198=
NR_046298.2:n.645C>G
NM_005984.5:c.594C>G MANE Select NP_005975.1:p.Arg198=
NM_001256534.2:c.615C>G NP_001243463.1:p.Arg205=
NM_001287387.2:c.285C>G NP_001274316.1:p.Arg95=
NR_046298.3:n.518C>G