Canonical Allele Identifier: CA410636181

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164130A>C (hg19) ; chr22:g.19176617A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176617A>C , CM000684.2:g.19176617A>C	GRCh38
NC_000022.10:g.19164130A>C , CM000684.1:g.19164130A>C	GRCh37
NC_000022.9:g.17544130A>C	NCBI36
NG_033863.1:g.7247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.708T>G MANE Select	ENSP00000215882.5:p.Phe236Leu
ENST00000215882.9:c.708T>G	ENSP00000215882.5:p.Phe236Leu
ENST00000451283.5:c.399T>G	ENSP00000401480.1:p.Phe133Leu
ENST00000470922.5:n.850T>G
NM_001256534.1:c.729T>G	NP_001243463.1:p.Phe243Leu
NM_001287387.1:c.399T>G	NP_001274316.1:p.Phe133Leu
NM_005984.4:c.708T>G	NP_005975.1:p.Phe236Leu
NR_046298.2:n.759T>G
NM_005984.5:c.708T>G MANE Select	NP_005975.1:p.Phe236Leu
NM_001256534.2:c.729T>G	NP_001243463.1:p.Phe243Leu
NM_001287387.2:c.399T>G	NP_001274316.1:p.Phe133Leu
NR_046298.3:n.632T>G