Canonical Allele Identifier: CA410636681

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164186T>A (hg19) ; chr22:g.19176673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176673T>A , CM000684.2:g.19176673T>A	GRCh38
NC_000022.10:g.19164186T>A , CM000684.1:g.19164186T>A	GRCh37
NC_000022.9:g.17544186T>A	NCBI36
NG_033863.1:g.7191A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.652A>T MANE Select	ENSP00000215882.5:p.Met218Leu
ENST00000215882.9:c.652A>T	ENSP00000215882.5:p.Met218Leu
ENST00000451283.5:c.343A>T	ENSP00000401480.1:p.Met115Leu
ENST00000461267.1:n.798A>T
ENST00000470922.5:n.794A>T
NM_001256534.1:c.673A>T	NP_001243463.1:p.Met225Leu
NM_001287387.1:c.343A>T	NP_001274316.1:p.Met115Leu
NM_005984.4:c.652A>T	NP_005975.1:p.Met218Leu
NR_046298.2:n.703A>T
NM_005984.5:c.652A>T MANE Select	NP_005975.1:p.Met218Leu
NM_001256534.2:c.673A>T	NP_001243463.1:p.Met225Leu
NM_001287387.2:c.343A>T	NP_001274316.1:p.Met115Leu
NR_046298.3:n.576A>T