Canonical Allele Identifier: CA1024086442
Gene: SLC25A1 HGNC NCBI

Linked Data

dbSNP Id: rs2083963317
gnomAD v3: 22-19176557-T-TC
gnomAD v4: 22-19176557-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176561dup , CM000684.2:g.19176561dup GRCh38
NC_000022.10:g.19164074dup , CM000684.1:g.19164074dup GRCh37
NC_000022.9:g.17544074dup NCBI36
NG_033863.1:g.7306dup

Transcript Alleles

HGVS Amino-acid change
ENST00000215882.10:c.747+20dup MANE Select ENSP00000215882.5:n.747+20dup
ENST00000215882.9:c.747+20dup ENSP00000215882.5:n.747+20dup
ENST00000451283.5:c.438+20dup ENSP00000401480.1:n.438+20dup
ENST00000470922.5:n.889+20dup
NM_001256534.1:c.768+20dup NP_001243463.1:n.768+20dup
NM_001287387.1:c.438+20dup NP_001274316.1:n.438+20dup
NM_005984.4:c.747+20dup NP_005975.1:n.747+20dup
NR_046298.2:n.798+20dup
NM_005984.5:c.747+20dup MANE Select NP_005975.1:n.747+20dup
NM_001256534.2:c.768+20dup NP_001243463.1:n.768+20dup
NM_001287387.2:c.438+20dup NP_001274316.1:n.438+20dup
NR_046298.3:n.671+20dup
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