Canonical Allele Identifier: CA410633862

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163713T>C (hg19) ; chr22:g.19176200T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176200T>C , CM000684.2:g.19176200T>C	GRCh38
NC_000022.10:g.19163713T>C , CM000684.1:g.19163713T>C	GRCh37
NC_000022.9:g.17543713T>C	NCBI36
NG_033863.1:g.7664A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.866A>G MANE Select	ENSP00000215882.5:p.Asp289Gly
ENST00000215882.9:c.866A>G	ENSP00000215882.5:p.Asp289Gly
ENST00000451283.5:c.557A>G	ENSP00000401480.1:p.Asp186Gly
ENST00000470922.5:n.1008A>G
NM_001256534.1:c.887A>G	NP_001243463.1:p.Asp296Gly
NM_001287387.1:c.557A>G	NP_001274316.1:p.Asp186Gly
NM_005984.4:c.866A>G	NP_005975.1:p.Asp289Gly
NR_046298.2:n.917A>G
NM_005984.5:c.866A>G MANE Select	NP_005975.1:p.Asp289Gly
NM_001256534.2:c.887A>G	NP_001243463.1:p.Asp296Gly
NM_001287387.2:c.557A>G	NP_001274316.1:p.Asp186Gly
NR_046298.3:n.790A>G