Canonical Allele Identifier: CA10097285

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782240680
• ExAC: 22:19163957 G / T
• gnomAD v2: 22-19163957-G-T
• MyVariant Identifiers: chr22:g.19163957G>T (hg19) ; chr22:g.19176444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176444G>T , CM000684.2:g.19176444G>T	GRCh38
NC_000022.10:g.19163957G>T , CM000684.1:g.19163957G>T	GRCh37
NC_000022.9:g.17543957G>T	NCBI36
NG_033863.1:g.7420C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.798C>A MANE Select	ENSP00000215882.5:p.Ile266=
ENST00000215882.9:c.798C>A	ENSP00000215882.5:p.Ile266=
ENST00000451283.5:c.489C>A	ENSP00000401480.1:p.Ile163=
ENST00000470922.5:n.940C>A
NM_001256534.1:c.819C>A	NP_001243463.1:p.Ile273=
NM_001287387.1:c.489C>A	NP_001274316.1:p.Ile163=
NM_005984.4:c.798C>A	NP_005975.1:p.Ile266=
NR_046298.2:n.849C>A
NM_005984.5:c.798C>A MANE Select	NP_005975.1:p.Ile266=
NM_001256534.2:c.819C>A	NP_001243463.1:p.Ile273=
NM_001287387.2:c.489C>A	NP_001274316.1:p.Ile163=
NR_046298.3:n.722C>A