Canonical Allele Identifier: CA410637298

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1351865403
• gnomAD v2: 22-19164424-A-G
• MyVariant Identifiers: chr22:g.19164424A>G (hg19) ; chr22:g.19176911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176911A>G , CM000684.2:g.19176911A>G	GRCh38
NC_000022.10:g.19164424A>G , CM000684.1:g.19164424A>G	GRCh37
NC_000022.9:g.17544424A>G	NCBI36
NG_033863.1:g.6953T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.566T>C MANE Select	ENSP00000215882.5:p.Leu189Pro
ENST00000215882.9:c.566T>C	ENSP00000215882.5:p.Leu189Pro
ENST00000451283.5:c.257T>C	ENSP00000401480.1:p.Leu86Pro
ENST00000461267.1:n.712T>C
ENST00000470922.5:n.708T>C
NM_001256534.1:c.587T>C	NP_001243463.1:p.Leu196Pro
NM_001287387.1:c.257T>C	NP_001274316.1:p.Leu86Pro
NM_005984.4:c.566T>C	NP_005975.1:p.Leu189Pro
NR_046298.2:n.617T>C
NM_005984.5:c.566T>C MANE Select	NP_005975.1:p.Leu189Pro
NM_001256534.2:c.587T>C	NP_001243463.1:p.Leu196Pro
NM_001287387.2:c.257T>C	NP_001274316.1:p.Leu86Pro
NR_046298.3:n.490T>C