Canonical Allele Identifier: CA410636112

Gene: SLC25A1

Linked Data

• COSMIC: COSM1616230
• MyVariant Identifiers: chr22:g.19164123T>A (hg19) ; chr22:g.19176610T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176610T>A , CM000684.2:g.19176610T>A	GRCh38
NC_000022.10:g.19164123T>A , CM000684.1:g.19164123T>A	GRCh37
NC_000022.9:g.17544123T>A	NCBI36
NG_033863.1:g.7254A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.715A>T MANE Select	ENSP00000215882.5:p.Thr239Ser
ENST00000215882.9:c.715A>T	ENSP00000215882.5:p.Thr239Ser
ENST00000451283.5:c.406A>T	ENSP00000401480.1:p.Thr136Ser
ENST00000470922.5:n.857A>T
NM_001256534.1:c.736A>T	NP_001243463.1:p.Thr246Ser
NM_001287387.1:c.406A>T	NP_001274316.1:p.Thr136Ser
NM_005984.4:c.715A>T	NP_005975.1:p.Thr239Ser
NR_046298.2:n.766A>T
NM_005984.5:c.715A>T MANE Select	NP_005975.1:p.Thr239Ser
NM_001256534.2:c.736A>T	NP_001243463.1:p.Thr246Ser
NM_001287387.2:c.406A>T	NP_001274316.1:p.Thr136Ser
NR_046298.3:n.639A>T