Canonical Allele Identifier: CA410633718

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083956791
• MyVariant Identifiers: chr22:g.19163692A>G (hg19) ; chr22:g.19176179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176179A>G , CM000684.2:g.19176179A>G	GRCh38
NC_000022.10:g.19163692A>G , CM000684.1:g.19163692A>G	GRCh37
NC_000022.9:g.17543692A>G	NCBI36
NG_033863.1:g.7685T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.887T>C MANE Select	ENSP00000215882.5:p.Ile296Thr
ENST00000215882.9:c.887T>C	ENSP00000215882.5:p.Ile296Thr
ENST00000451283.5:c.578T>C	ENSP00000401480.1:p.Ile193Thr
ENST00000470922.5:n.1029T>C
NM_001256534.1:c.908T>C	NP_001243463.1:p.Ile303Thr
NM_001287387.1:c.578T>C	NP_001274316.1:p.Ile193Thr
NM_005984.4:c.887T>C	NP_005975.1:p.Ile296Thr
NR_046298.2:n.938T>C
NM_005984.5:c.887T>C MANE Select	NP_005975.1:p.Ile296Thr
NM_001256534.2:c.908T>C	NP_001243463.1:p.Ile303Thr
NM_001287387.2:c.578T>C	NP_001274316.1:p.Ile193Thr
NR_046298.3:n.811T>C