Canonical Allele Identifier: CA10097336

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782031035
• ExAC: 22:19164151 A / G
• gnomAD v2: 22-19164151-A-G
• MyVariant Identifiers: chr22:g.19164151A>G (hg19) ; chr22:g.19176638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176638A>G , CM000684.2:g.19176638A>G	GRCh38
NC_000022.10:g.19164151A>G , CM000684.1:g.19164151A>G	GRCh37
NC_000022.9:g.17544151A>G	NCBI36
NG_033863.1:g.7226T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.687T>C MANE Select	ENSP00000215882.5:p.Ile229=
ENST00000215882.9:c.687T>C	ENSP00000215882.5:p.Ile229=
ENST00000451283.5:c.378T>C	ENSP00000401480.1:p.Ile126=
ENST00000470922.5:n.829T>C
NM_001256534.1:c.708T>C	NP_001243463.1:p.Ile236=
NM_001287387.1:c.378T>C	NP_001274316.1:p.Ile126=
NM_005984.4:c.687T>C	NP_005975.1:p.Ile229=
NR_046298.2:n.738T>C
NM_005984.5:c.687T>C MANE Select	NP_005975.1:p.Ile229=
NM_001256534.2:c.708T>C	NP_001243463.1:p.Ile236=
NM_001287387.2:c.378T>C	NP_001274316.1:p.Ile126=
NR_046298.3:n.611T>C