Canonical Allele Identifier: CA321343457

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1038478368
• gnomAD v2: 22-19163641-G-C
• gnomAD v3: 22-19176128-G-C
• gnomAD v4: 22-19176128-G-C
• MyVariant Identifiers: chr22:g.19163641G>C (hg19) ; chr22:g.19176128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176128G>C , CM000684.2:g.19176128G>C	GRCh38
NC_000022.10:g.19163641G>C , CM000684.1:g.19163641G>C	GRCh37
NC_000022.9:g.17543641G>C	NCBI36
NG_033863.1:g.7736C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.*2C>G MANE Select	ENSP00000215882.5:n.*2C>G
ENST00000215882.9:c.*2C>G	ENSP00000215882.5:n.*2C>G
ENST00000451283.5:c.*2C>G	ENSP00000401480.1:n.*2C>G
ENST00000470922.5:n.1080C>G
NM_001256534.1:c.*2C>G	NP_001243463.1:n.*2C>G
NM_001287387.1:c.*2C>G	NP_001274316.1:n.*2C>G
NM_005984.4:c.*2C>G	NP_005975.1:n.*2C>G
NR_046298.2:n.989C>G
NM_005984.5:c.*2C>G MANE Select	NP_005975.1:n.*2C>G
NM_001256534.2:c.*2C>G	NP_001243463.1:n.*2C>G
NM_001287387.2:c.*2C>G	NP_001274316.1:n.*2C>G
NR_046298.3:n.862C>G