Canonical Allele Identifier: CA10097381

Gene: SLC25A1

Linked Data

• dbSNP Id: rs368160100
• ExAC: 22:19164399 G / C
• MyVariant Identifiers: chr22:g.19164399G>C (hg19) ; chr22:g.19176886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176886G>C , CM000684.2:g.19176886G>C	GRCh38
NC_000022.10:g.19164399G>C , CM000684.1:g.19164399G>C	GRCh37
NC_000022.9:g.17544399G>C	NCBI36
NG_033863.1:g.6978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.591C>G MANE Select	ENSP00000215882.5:p.Ile197Met
ENST00000215882.9:c.591C>G	ENSP00000215882.5:p.Ile197Met
ENST00000451283.5:c.282C>G	ENSP00000401480.1:p.Ile94Met
ENST00000461267.1:n.737C>G
ENST00000470922.5:n.733C>G
NM_001256534.1:c.612C>G	NP_001243463.1:p.Ile204Met
NM_001287387.1:c.282C>G	NP_001274316.1:p.Ile94Met
NM_005984.4:c.591C>G	NP_005975.1:p.Ile197Met
NR_046298.2:n.642C>G
NM_005984.5:c.591C>G MANE Select	NP_005975.1:p.Ile197Met
NM_001256534.2:c.612C>G	NP_001243463.1:p.Ile204Met
NM_001287387.2:c.282C>G	NP_001274316.1:p.Ile94Met
NR_046298.3:n.515C>G