Canonical Allele Identifier: CA10097331

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 559378
• ClinVar RCV Id: RCV000677070
• dbSNP Id: rs375963287
• ExAC: 22:19164127 T / A
• gnomAD v2: 22-19164127-T-A
• gnomAD v3: 22-19176614-T-A
• gnomAD v4: 22-19176614-T-A
• MyVariant Identifiers: chr22:g.19164127T>A (hg19) ; chr22:g.19176614T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176614T>A , CM000684.2:g.19176614T>A	GRCh38
NC_000022.10:g.19164127T>A , CM000684.1:g.19164127T>A	GRCh37
NC_000022.9:g.17544127T>A	NCBI36
NG_033863.1:g.7250A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.711A>T MANE Select	ENSP00000215882.5:p.Gly237=
ENST00000215882.9:c.711A>T	ENSP00000215882.5:p.Gly237=
ENST00000451283.5:c.402A>T	ENSP00000401480.1:p.Gly134=
ENST00000470922.5:n.853A>T
NM_001256534.1:c.732A>T	NP_001243463.1:p.Gly244=
NM_001287387.1:c.402A>T	NP_001274316.1:p.Gly134=
NM_005984.4:c.711A>T	NP_005975.1:p.Gly237=
NR_046298.2:n.762A>T
NM_005984.5:c.711A>T MANE Select	NP_005975.1:p.Gly237=
NM_001256534.2:c.732A>T	NP_001243463.1:p.Gly244=
NM_001287387.2:c.402A>T	NP_001274316.1:p.Gly134=
NR_046298.3:n.635A>T