Canonical Allele Identifier: CA513188379

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164142T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176629T>C , CM000684.2:g.19176629T>C	GRCh38
NC_000022.10:g.19164142T>C , CM000684.1:g.19164142T>C	GRCh37
NC_000022.9:g.17544142T>C	NCBI36
NG_033863.1:g.7235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.696A>G MANE Select	ENSP00000215882.5:p.Ala232=
ENST00000215882.9:c.696A>G	ENSP00000215882.5:p.Ala232=
ENST00000451283.5:c.387A>G	ENSP00000401480.1:p.Ala129=
ENST00000470922.5:n.838A>G
NM_001256534.1:c.717A>G	NP_001243463.1:p.Ala239=
NM_001287387.1:c.387A>G	NP_001274316.1:p.Ala129=
NM_005984.4:c.696A>G	NP_005975.1:p.Ala232=
NR_046298.2:n.747A>G
NM_005984.5:c.696A>G MANE Select	NP_005975.1:p.Ala232=
NM_001256534.2:c.717A>G	NP_001243463.1:p.Ala239=
NM_001287387.2:c.387A>G	NP_001274316.1:p.Ala129=
NR_046298.3:n.620A>G