Canonical Allele Identifier: CA410636215

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164134A>C (hg19) ; chr22:g.19176621A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176621A>C , CM000684.2:g.19176621A>C	GRCh38
NC_000022.10:g.19164134A>C , CM000684.1:g.19164134A>C	GRCh37
NC_000022.9:g.17544134A>C	NCBI36
NG_033863.1:g.7243T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.704T>G MANE Select	ENSP00000215882.5:p.Val235Gly
ENST00000215882.9:c.704T>G	ENSP00000215882.5:p.Val235Gly
ENST00000451283.5:c.395T>G	ENSP00000401480.1:p.Val132Gly
ENST00000470922.5:n.846T>G
NM_001256534.1:c.725T>G	NP_001243463.1:p.Val242Gly
NM_001287387.1:c.395T>G	NP_001274316.1:p.Val132Gly
NM_005984.4:c.704T>G	NP_005975.1:p.Val235Gly
NR_046298.2:n.755T>G
NM_005984.5:c.704T>G MANE Select	NP_005975.1:p.Val235Gly
NM_001256534.2:c.725T>G	NP_001243463.1:p.Val242Gly
NM_001287387.2:c.395T>G	NP_001274316.1:p.Val132Gly
NR_046298.3:n.628T>G