Canonical Allele Identifier: CA10097266

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782587786
• ExAC: 22:19163805 C / G
• gnomAD v2: 22-19163805-C-G
• gnomAD v3: 22-19176292-C-G
• gnomAD v4: 22-19176292-C-G
• MyVariant Identifiers: chr22:g.19163805C>G (hg19) ; chr22:g.19176292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176292C>G , CM000684.2:g.19176292C>G	GRCh38
NC_000022.10:g.19163805C>G , CM000684.1:g.19163805C>G	GRCh37
NC_000022.9:g.17543805C>G	NCBI36
NG_033863.1:g.7572G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.822-48G>C MANE Select	ENSP00000215882.5:n.822-48G>C
ENST00000215882.9:c.822-48G>C	ENSP00000215882.5:n.822-48G>C
ENST00000451283.5:c.513-48G>C	ENSP00000401480.1:n.513-48G>C
ENST00000470922.5:n.964-48G>C
NM_001256534.1:c.843-48G>C	NP_001243463.1:n.843-48G>C
NM_001287387.1:c.513-48G>C	NP_001274316.1:n.513-48G>C
NM_005984.4:c.822-48G>C	NP_005975.1:n.822-48G>C
NR_046298.2:n.873-48G>C
NM_005984.5:c.822-48G>C MANE Select	NP_005975.1:n.822-48G>C
NM_001256534.2:c.843-48G>C	NP_001243463.1:n.843-48G>C
NM_001287387.2:c.513-48G>C	NP_001274316.1:n.513-48G>C
NR_046298.3:n.746-48G>C