Canonical Allele Identifier: CA321344660

Gene: SLC25A1

Linked Data

• dbSNP Id: rs897206165
• MyVariant Identifiers: chr22:g.19164386T>C (hg19) ; chr22:g.19176873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176873T>C , CM000684.2:g.19176873T>C	GRCh38
NC_000022.10:g.19164386T>C , CM000684.1:g.19164386T>C	GRCh37
NC_000022.9:g.17544386T>C	NCBI36
NG_033863.1:g.6991A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.604A>G MANE Select	ENSP00000215882.5:p.Met202Val
ENST00000215882.9:c.604A>G	ENSP00000215882.5:p.Met202Val
ENST00000451283.5:c.295A>G	ENSP00000401480.1:p.Met99Val
ENST00000461267.1:n.750A>G
ENST00000470922.5:n.746A>G
NM_001256534.1:c.625A>G	NP_001243463.1:p.Met209Val
NM_001287387.1:c.295A>G	NP_001274316.1:p.Met99Val
NM_005984.4:c.604A>G	NP_005975.1:p.Met202Val
NR_046298.2:n.655A>G
NM_005984.5:c.604A>G MANE Select	NP_005975.1:p.Met202Val
NM_001256534.2:c.625A>G	NP_001243463.1:p.Met209Val
NM_001287387.2:c.295A>G	NP_001274316.1:p.Met99Val
NR_046298.3:n.528A>G