Canonical Allele Identifier: CA410637084

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164379G>T (hg19) ; chr22:g.19176866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176866G>T , CM000684.2:g.19176866G>T	GRCh38
NC_000022.10:g.19164379G>T , CM000684.1:g.19164379G>T	GRCh37
NC_000022.9:g.17544379G>T	NCBI36
NG_033863.1:g.6998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.611C>A MANE Select	ENSP00000215882.5:p.Ser204Tyr
ENST00000215882.9:c.611C>A	ENSP00000215882.5:p.Ser204Tyr
ENST00000451283.5:c.302C>A	ENSP00000401480.1:p.Ser101Tyr
ENST00000461267.1:n.757C>A
ENST00000470922.5:n.753C>A
NM_001256534.1:c.632C>A	NP_001243463.1:p.Ser211Tyr
NM_001287387.1:c.302C>A	NP_001274316.1:p.Ser101Tyr
NM_005984.4:c.611C>A	NP_005975.1:p.Ser204Tyr
NR_046298.2:n.662C>A
NM_005984.5:c.611C>A MANE Select	NP_005975.1:p.Ser204Tyr
NM_001256534.2:c.632C>A	NP_001243463.1:p.Ser211Tyr
NM_001287387.2:c.302C>A	NP_001274316.1:p.Ser101Tyr
NR_046298.3:n.535C>A