Canonical Allele Identifier: CA410633722

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083956833
• gnomAD v4: 22-19176180-T-C
• MyVariant Identifiers: chr22:g.19163693T>C (hg19) ; chr22:g.19176180T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176180T>C , CM000684.2:g.19176180T>C	GRCh38
NC_000022.10:g.19163693T>C , CM000684.1:g.19163693T>C	GRCh37
NC_000022.9:g.17543693T>C	NCBI36
NG_033863.1:g.7684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.886A>G MANE Select	ENSP00000215882.5:p.Ile296Val
ENST00000215882.9:c.886A>G	ENSP00000215882.5:p.Ile296Val
ENST00000451283.5:c.577A>G	ENSP00000401480.1:p.Ile193Val
ENST00000470922.5:n.1028A>G
NM_001256534.1:c.907A>G	NP_001243463.1:p.Ile303Val
NM_001287387.1:c.577A>G	NP_001274316.1:p.Ile193Val
NM_005984.4:c.886A>G	NP_005975.1:p.Ile296Val
NR_046298.2:n.937A>G
NM_005984.5:c.886A>G MANE Select	NP_005975.1:p.Ile296Val
NM_001256534.2:c.907A>G	NP_001243463.1:p.Ile303Val
NM_001287387.2:c.577A>G	NP_001274316.1:p.Ile193Val
NR_046298.3:n.810A>G