Canonical Allele Identifier: CA410633801

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083956926
• gnomAD v3: 22-19176191-A-G
• gnomAD v4: 22-19176191-A-G
• MyVariant Identifiers: chr22:g.19163704A>G (hg19) ; chr22:g.19176191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176191A>G , CM000684.2:g.19176191A>G	GRCh38
NC_000022.10:g.19163704A>G , CM000684.1:g.19163704A>G	GRCh37
NC_000022.9:g.17543704A>G	NCBI36
NG_033863.1:g.7673T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.875T>C MANE Select	ENSP00000215882.5:p.Ile292Thr
ENST00000215882.9:c.875T>C	ENSP00000215882.5:p.Ile292Thr
ENST00000451283.5:c.566T>C	ENSP00000401480.1:p.Ile189Thr
ENST00000470922.5:n.1017T>C
NM_001256534.1:c.896T>C	NP_001243463.1:p.Ile299Thr
NM_001287387.1:c.566T>C	NP_001274316.1:p.Ile189Thr
NM_005984.4:c.875T>C	NP_005975.1:p.Ile292Thr
NR_046298.2:n.926T>C
NM_005984.5:c.875T>C MANE Select	NP_005975.1:p.Ile292Thr
NM_001256534.2:c.896T>C	NP_001243463.1:p.Ile299Thr
NM_001287387.2:c.566T>C	NP_001274316.1:p.Ile189Thr
NR_046298.3:n.799T>C