Canonical Allele Identifier: CA321344625

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1015690358
• gnomAD v4: 22-19176856-G-C
• MyVariant Identifiers: chr22:g.19164369G>C (hg19) ; chr22:g.19176856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176856G>C , CM000684.2:g.19176856G>C	GRCh38
NC_000022.10:g.19164369G>C , CM000684.1:g.19164369G>C	GRCh37
NC_000022.9:g.17544369G>C	NCBI36
NG_033863.1:g.7008C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.621C>G MANE Select	ENSP00000215882.5:p.Asn207Lys
ENST00000215882.9:c.621C>G	ENSP00000215882.5:p.Asn207Lys
ENST00000451283.5:c.312C>G	ENSP00000401480.1:p.Asn104Lys
ENST00000461267.1:n.767C>G
ENST00000470922.5:n.763C>G
NM_001256534.1:c.642C>G	NP_001243463.1:p.Asn214Lys
NM_001287387.1:c.312C>G	NP_001274316.1:p.Asn104Lys
NM_005984.4:c.621C>G	NP_005975.1:p.Asn207Lys
NR_046298.2:n.672C>G
NM_005984.5:c.621C>G MANE Select	NP_005975.1:p.Asn207Lys
NM_001256534.2:c.642C>G	NP_001243463.1:p.Asn214Lys
NM_001287387.2:c.312C>G	NP_001274316.1:p.Asn104Lys
NR_046298.3:n.545C>G