Canonical Allele Identifier: CA410633701

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 1034233
• ClinVar RCV Id: RCV001336895
• dbSNP Id: rs2083956740
• gnomAD v4: 22-19176177-A-G
• MyVariant Identifiers: chr22:g.19163690A>G (hg19) ; chr22:g.19176177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176177A>G , CM000684.2:g.19176177A>G	GRCh38
NC_000022.10:g.19163690A>G , CM000684.1:g.19163690A>G	GRCh37
NC_000022.9:g.17543690A>G	NCBI36
NG_033863.1:g.7687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.889T>C MANE Select	ENSP00000215882.5:p.Tyr297His
ENST00000215882.9:c.889T>C	ENSP00000215882.5:p.Tyr297His
ENST00000451283.5:c.580T>C	ENSP00000401480.1:p.Tyr194His
ENST00000470922.5:n.1031T>C
NM_001256534.1:c.910T>C	NP_001243463.1:p.Tyr304His
NM_001287387.1:c.580T>C	NP_001274316.1:p.Tyr194His
NM_005984.4:c.889T>C	NP_005975.1:p.Tyr297His
NR_046298.2:n.940T>C
NM_005984.5:c.889T>C MANE Select	NP_005975.1:p.Tyr297His
NM_001256534.2:c.910T>C	NP_001243463.1:p.Tyr304His
NM_001287387.2:c.580T>C	NP_001274316.1:p.Tyr194His
NR_046298.3:n.813T>C