Canonical Allele Identifier: CA410636660

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176670-T-C
• MyVariant Identifiers: chr22:g.19164183T>C (hg19) ; chr22:g.19176670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176670T>C , CM000684.2:g.19176670T>C	GRCh38
NC_000022.10:g.19164183T>C , CM000684.1:g.19164183T>C	GRCh37
NC_000022.9:g.17544183T>C	NCBI36
NG_033863.1:g.7194A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.655A>G MANE Select	ENSP00000215882.5:p.Asn219Asp
ENST00000215882.9:c.655A>G	ENSP00000215882.5:p.Asn219Asp
ENST00000451283.5:c.346A>G	ENSP00000401480.1:p.Asn116Asp
ENST00000461267.1:n.801A>G
ENST00000470922.5:n.797A>G
NM_001256534.1:c.676A>G	NP_001243463.1:p.Asn226Asp
NM_001287387.1:c.346A>G	NP_001274316.1:p.Asn116Asp
NM_005984.4:c.655A>G	NP_005975.1:p.Asn219Asp
NR_046298.2:n.706A>G
NM_005984.5:c.655A>G MANE Select	NP_005975.1:p.Asn219Asp
NM_001256534.2:c.676A>G	NP_001243463.1:p.Asn226Asp
NM_001287387.2:c.346A>G	NP_001274316.1:p.Asn116Asp
NR_046298.3:n.579A>G