Canonical Allele Identifier: CA2577642898
Gene: SLC25A1 HGNC NCBI

Linked Data

gnomAD v4: 22-19176117-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176117G>T , CM000684.2:g.19176117G>T GRCh38
NC_000022.10:g.19163630G>T , CM000684.1:g.19163630G>T GRCh37
NC_000022.9:g.17543630G>T NCBI36
NG_033863.1:g.7747C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.*13C>A MANE Select ENSP00000215882.5:n.*13C>A
ENST00000215882.9:c.*13C>A ENSP00000215882.5:n.*13C>A
ENST00000451283.5:c.*13C>A ENSP00000401480.1:n.*13C>A
ENST00000470922.5:n.1091C>A
NM_001256534.1:c.*13C>A NP_001243463.1:n.*13C>A
NM_001287387.1:c.*13C>A NP_001274316.1:n.*13C>A
NM_005984.4:c.*13C>A NP_005975.1:n.*13C>A
NR_046298.2:n.1000C>A
NM_005984.5:c.*13C>A MANE Select NP_005975.1:n.*13C>A
NM_001256534.2:c.*13C>A NP_001243463.1:n.*13C>A
NM_001287387.2:c.*13C>A NP_001274316.1:n.*13C>A
NR_046298.3:n.873C>A
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