Canonical Allele Identifier: CA410633809

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176192-T-C
• MyVariant Identifiers: chr22:g.19163705T>C (hg19) ; chr22:g.19176192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176192T>C , CM000684.2:g.19176192T>C	GRCh38
NC_000022.10:g.19163705T>C , CM000684.1:g.19163705T>C	GRCh37
NC_000022.9:g.17543705T>C	NCBI36
NG_033863.1:g.7672A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.874A>G MANE Select	ENSP00000215882.5:p.Ile292Val
ENST00000215882.9:c.874A>G	ENSP00000215882.5:p.Ile292Val
ENST00000451283.5:c.565A>G	ENSP00000401480.1:p.Ile189Val
ENST00000470922.5:n.1016A>G
NM_001256534.1:c.895A>G	NP_001243463.1:p.Ile299Val
NM_001287387.1:c.565A>G	NP_001274316.1:p.Ile189Val
NM_005984.4:c.874A>G	NP_005975.1:p.Ile292Val
NR_046298.2:n.925A>G
NM_005984.5:c.874A>G MANE Select	NP_005975.1:p.Ile292Val
NM_001256534.2:c.895A>G	NP_001243463.1:p.Ile299Val
NM_001287387.2:c.565A>G	NP_001274316.1:p.Ile189Val
NR_046298.3:n.798A>G