Canonical Allele Identifier: CA10097239

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 2200903
• ClinVar RCV Id: RCV002644256
• dbSNP Id: rs782723670
• ExAC: 22:19163650 G / A
• gnomAD v2: 22-19163650-G-A
• gnomAD v4: 22-19176137-G-A
• COSMIC: COSM5393144
• MyVariant Identifiers: chr22:g.19163650G>A (hg19) ; chr22:g.19176137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176137G>A , CM000684.2:g.19176137G>A	GRCh38
NC_000022.10:g.19163650G>A , CM000684.1:g.19163650G>A	GRCh37
NC_000022.9:g.17543650G>A	NCBI36
NG_033863.1:g.7727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.929C>T MANE Select	ENSP00000215882.5:p.Thr310Met
ENST00000215882.9:c.929C>T	ENSP00000215882.5:p.Thr310Met
ENST00000451283.5:c.620C>T	ENSP00000401480.1:p.Thr207Met
ENST00000470922.5:n.1071C>T
NM_001256534.1:c.950C>T	NP_001243463.1:p.Thr317Met
NM_001287387.1:c.620C>T	NP_001274316.1:p.Thr207Met
NM_005984.4:c.929C>T	NP_005975.1:p.Thr310Met
NR_046298.2:n.980C>T
NM_005984.5:c.929C>T MANE Select	NP_005975.1:p.Thr310Met
NM_001256534.2:c.950C>T	NP_001243463.1:p.Thr317Met
NM_001287387.2:c.620C>T	NP_001274316.1:p.Thr207Met
NR_046298.3:n.853C>T