Canonical Allele Identifier: CA10097339
Gene: SLC25A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2044743
ClinVar RCV Id: RCV002900340
dbSNP Id: rs144302992
ExAC: 22:19164166 C / G
gnomAD v2: 22-19164166-C-G
gnomAD v3: 22-19176653-C-G
gnomAD v4: 22-19176653-C-G
MyVariant Identifiers: chr22:g.19164166C>G (hg19) chr22:g.19176653C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176653C>G , CM000684.2:g.19176653C>G GRCh38
NC_000022.10:g.19164166C>G , CM000684.1:g.19164166C>G GRCh37
NC_000022.9:g.17544166C>G NCBI36
NG_033863.1:g.7211G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.672G>C MANE Select ENSP00000215882.5:p.Gly224=
ENST00000215882.9:c.672G>C ENSP00000215882.5:p.Gly224=
ENST00000451283.5:c.363G>C ENSP00000401480.1:p.Gly121=
ENST00000470922.5:n.814G>C
NM_001256534.1:c.693G>C NP_001243463.1:p.Gly231=
NM_001287387.1:c.363G>C NP_001274316.1:p.Gly121=
NM_005984.4:c.672G>C NP_005975.1:p.Gly224=
NR_046298.2:n.723G>C
NM_005984.5:c.672G>C MANE Select NP_005975.1:p.Gly224=
NM_001256534.2:c.693G>C NP_001243463.1:p.Gly231=
NM_001287387.2:c.363G>C NP_001274316.1:p.Gly121=
NR_046298.3:n.596G>C
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