Canonical Allele Identifier: CA410633969

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163732G>C (hg19) ; chr22:g.19176219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176219G>C , CM000684.2:g.19176219G>C	GRCh38
NC_000022.10:g.19163732G>C , CM000684.1:g.19163732G>C	GRCh37
NC_000022.9:g.17543732G>C	NCBI36
NG_033863.1:g.7645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.847C>G MANE Select	ENSP00000215882.5:p.Leu283Val
ENST00000215882.9:c.847C>G	ENSP00000215882.5:p.Leu283Val
ENST00000451283.5:c.538C>G	ENSP00000401480.1:p.Leu180Val
ENST00000470922.5:n.989C>G
NM_001256534.1:c.868C>G	NP_001243463.1:p.Leu290Val
NM_001287387.1:c.538C>G	NP_001274316.1:p.Leu180Val
NM_005984.4:c.847C>G	NP_005975.1:p.Leu283Val
NR_046298.2:n.898C>G
NM_005984.5:c.847C>G MANE Select	NP_005975.1:p.Leu283Val
NM_001256534.2:c.868C>G	NP_001243463.1:p.Leu290Val
NM_001287387.2:c.538C>G	NP_001274316.1:p.Leu180Val
NR_046298.3:n.771C>G