Canonical Allele Identifier: CA410637179

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176882-A-C
• MyVariant Identifiers: chr22:g.19164395A>C (hg19) ; chr22:g.19176882A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176882A>C , CM000684.2:g.19176882A>C	GRCh38
NC_000022.10:g.19164395A>C , CM000684.1:g.19164395A>C	GRCh37
NC_000022.9:g.17544395A>C	NCBI36
NG_033863.1:g.6982T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.595T>G MANE Select	ENSP00000215882.5:p.Phe199Val
ENST00000215882.9:c.595T>G	ENSP00000215882.5:p.Phe199Val
ENST00000451283.5:c.286T>G	ENSP00000401480.1:p.Phe96Val
ENST00000461267.1:n.741T>G
ENST00000470922.5:n.737T>G
NM_001256534.1:c.616T>G	NP_001243463.1:p.Phe206Val
NM_001287387.1:c.286T>G	NP_001274316.1:p.Phe96Val
NM_005984.4:c.595T>G	NP_005975.1:p.Phe199Val
NR_046298.2:n.646T>G
NM_005984.5:c.595T>G MANE Select	NP_005975.1:p.Phe199Val
NM_001256534.2:c.616T>G	NP_001243463.1:p.Phe206Val
NM_001287387.2:c.286T>G	NP_001274316.1:p.Phe96Val
NR_046298.3:n.519T>G