Canonical Allele Identifier: CA410637122

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164384C>T (hg19) ; chr22:g.19176871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176871C>T , CM000684.2:g.19176871C>T	GRCh38
NC_000022.10:g.19164384C>T , CM000684.1:g.19164384C>T	GRCh37
NC_000022.9:g.17544384C>T	NCBI36
NG_033863.1:g.6993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.606G>A MANE Select	ENSP00000215882.5:p.Met202Ile
ENST00000215882.9:c.606G>A	ENSP00000215882.5:p.Met202Ile
ENST00000451283.5:c.297G>A	ENSP00000401480.1:p.Met99Ile
ENST00000461267.1:n.752G>A
ENST00000470922.5:n.748G>A
NM_001256534.1:c.627G>A	NP_001243463.1:p.Met209Ile
NM_001287387.1:c.297G>A	NP_001274316.1:p.Met99Ile
NM_005984.4:c.606G>A	NP_005975.1:p.Met202Ile
NR_046298.2:n.657G>A
NM_005984.5:c.606G>A MANE Select	NP_005975.1:p.Met202Ile
NM_001256534.2:c.627G>A	NP_001243463.1:p.Met209Ile
NM_001287387.2:c.297G>A	NP_001274316.1:p.Met99Ile
NR_046298.3:n.530G>A