Canonical Allele Identifier: CA410637252

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164412G>T (hg19) ; chr22:g.19176899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176899G>T , CM000684.2:g.19176899G>T	GRCh38
NC_000022.10:g.19164412G>T , CM000684.1:g.19164412G>T	GRCh37
NC_000022.9:g.17544412G>T	NCBI36
NG_033863.1:g.6965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.578C>A MANE Select	ENSP00000215882.5:p.Ser193Ter
ENST00000215882.9:c.578C>A	ENSP00000215882.5:p.Ser193Ter
ENST00000451283.5:c.269C>A	ENSP00000401480.1:p.Ser90Ter
ENST00000461267.1:n.724C>A
ENST00000470922.5:n.720C>A
NM_001256534.1:c.599C>A	NP_001243463.1:p.Ser200Ter
NM_001287387.1:c.269C>A	NP_001274316.1:p.Ser90Ter
NM_005984.4:c.578C>A	NP_005975.1:p.Ser193Ter
NR_046298.2:n.629C>A
NM_005984.5:c.578C>A MANE Select	NP_005975.1:p.Ser193Ter
NM_001256534.2:c.599C>A	NP_001243463.1:p.Ser200Ter
NM_001287387.2:c.269C>A	NP_001274316.1:p.Ser90Ter
NR_046298.3:n.502C>A