Canonical Allele Identifier: CA513188120

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176922-T-C
• MyVariant Identifiers: chr22:g.19164435T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176922T>C , CM000684.2:g.19176922T>C	GRCh38
NC_000022.10:g.19164435T>C , CM000684.1:g.19164435T>C	GRCh37
NC_000022.9:g.17544435T>C	NCBI36
NG_033863.1:g.6942A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.555A>G MANE Select	ENSP00000215882.5:p.Thr185=
ENST00000215882.9:c.555A>G	ENSP00000215882.5:p.Thr185=
ENST00000451283.5:c.246A>G	ENSP00000401480.1:p.Thr82=
ENST00000461267.1:n.701A>G
ENST00000470922.5:n.697A>G
NM_001256534.1:c.576A>G	NP_001243463.1:p.Thr192=
NM_001287387.1:c.246A>G	NP_001274316.1:p.Thr82=
NM_005984.4:c.555A>G	NP_005975.1:p.Thr185=
NR_046298.2:n.606A>G
NM_005984.5:c.555A>G MANE Select	NP_005975.1:p.Thr185=
NM_001256534.2:c.576A>G	NP_001243463.1:p.Thr192=
NM_001287387.2:c.246A>G	NP_001274316.1:p.Thr82=
NR_046298.3:n.479A>G