Canonical Allele Identifier: CA10097346

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782470985
• ExAC: 22:19164195 T / C
• gnomAD v2: 22-19164195-T-C
• MyVariant Identifiers: chr22:g.19164195T>C (hg19) ; chr22:g.19176682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176682T>C , CM000684.2:g.19176682T>C	GRCh38
NC_000022.10:g.19164195T>C , CM000684.1:g.19164195T>C	GRCh37
NC_000022.9:g.17544195T>C	NCBI36
NG_033863.1:g.7182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.643A>G MANE Select	ENSP00000215882.5:p.Asn215Asp
ENST00000215882.9:c.643A>G	ENSP00000215882.5:p.Asn215Asp
ENST00000451283.5:c.334A>G	ENSP00000401480.1:p.Asn112Asp
ENST00000461267.1:n.789A>G
ENST00000470922.5:n.785A>G
NM_001256534.1:c.664A>G	NP_001243463.1:p.Asn222Asp
NM_001287387.1:c.334A>G	NP_001274316.1:p.Asn112Asp
NM_005984.4:c.643A>G	NP_005975.1:p.Asn215Asp
NR_046298.2:n.694A>G
NM_005984.5:c.643A>G MANE Select	NP_005975.1:p.Asn215Asp
NM_001256534.2:c.664A>G	NP_001243463.1:p.Asn222Asp
NM_001287387.2:c.334A>G	NP_001274316.1:p.Asn112Asp
NR_046298.3:n.567A>G