Canonical Allele Identifier: CA410636389

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176640-T-C
• MyVariant Identifiers: chr22:g.19164153T>C (hg19) ; chr22:g.19176640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176640T>C , CM000684.2:g.19176640T>C	GRCh38
NC_000022.10:g.19164153T>C , CM000684.1:g.19164153T>C	GRCh37
NC_000022.9:g.17544153T>C	NCBI36
NG_033863.1:g.7224A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.685A>G MANE Select	ENSP00000215882.5:p.Ile229Val
ENST00000215882.9:c.685A>G	ENSP00000215882.5:p.Ile229Val
ENST00000451283.5:c.376A>G	ENSP00000401480.1:p.Ile126Val
ENST00000470922.5:n.827A>G
NM_001256534.1:c.706A>G	NP_001243463.1:p.Ile236Val
NM_001287387.1:c.376A>G	NP_001274316.1:p.Ile126Val
NM_005984.4:c.685A>G	NP_005975.1:p.Ile229Val
NR_046298.2:n.736A>G
NM_005984.5:c.685A>G MANE Select	NP_005975.1:p.Ile229Val
NM_001256534.2:c.706A>G	NP_001243463.1:p.Ile236Val
NM_001287387.2:c.376A>G	NP_001274316.1:p.Ile126Val
NR_046298.3:n.609A>G