Canonical Allele Identifier: CA410637316

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083970137
• gnomAD v4: 22-19176915-C-T
• MyVariant Identifiers: chr22:g.19164428C>T (hg19) ; chr22:g.19176915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176915C>T , CM000684.2:g.19176915C>T	GRCh38
NC_000022.10:g.19164428C>T , CM000684.1:g.19164428C>T	GRCh37
NC_000022.9:g.17544428C>T	NCBI36
NG_033863.1:g.6949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.562G>A MANE Select	ENSP00000215882.5:p.Val188Ile
ENST00000215882.9:c.562G>A	ENSP00000215882.5:p.Val188Ile
ENST00000451283.5:c.253G>A	ENSP00000401480.1:p.Val85Ile
ENST00000461267.1:n.708G>A
ENST00000470922.5:n.704G>A
NM_001256534.1:c.583G>A	NP_001243463.1:p.Val195Ile
NM_001287387.1:c.253G>A	NP_001274316.1:p.Val85Ile
NM_005984.4:c.562G>A	NP_005975.1:p.Val188Ile
NR_046298.2:n.613G>A
NM_005984.5:c.562G>A MANE Select	NP_005975.1:p.Val188Ile
NM_001256534.2:c.583G>A	NP_001243463.1:p.Val195Ile
NM_001287387.2:c.253G>A	NP_001274316.1:p.Val85Ile
NR_046298.3:n.486G>A