Canonical Allele Identifier: CA513188424

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 1980874
• ClinVar RCV Id: RCV002761672
• dbSNP Id: rs1555922415
• gnomAD v4: 22-19176668-G-A
• MyVariant Identifiers: chr22:g.19164181G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176668G>A , CM000684.2:g.19176668G>A	GRCh38
NC_000022.10:g.19164181G>A , CM000684.1:g.19164181G>A	GRCh37
NC_000022.9:g.17544181G>A	NCBI36
NG_033863.1:g.7196C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.657C>T MANE Select	ENSP00000215882.5:p.Asn219=
ENST00000215882.9:c.657C>T	ENSP00000215882.5:p.Asn219=
ENST00000451283.5:c.348C>T	ENSP00000401480.1:p.Asn116=
ENST00000461267.1:n.803C>T
ENST00000470922.5:n.799C>T
NM_001256534.1:c.678C>T	NP_001243463.1:p.Asn226=
NM_001287387.1:c.348C>T	NP_001274316.1:p.Asn116=
NM_005984.4:c.657C>T	NP_005975.1:p.Asn219=
NR_046298.2:n.708C>T
NM_005984.5:c.657C>T MANE Select	NP_005975.1:p.Asn219=
NM_001256534.2:c.678C>T	NP_001243463.1:p.Asn226=
NM_001287387.2:c.348C>T	NP_001274316.1:p.Asn116=
NR_046298.3:n.581C>T