Canonical Allele Identifier: CA2672840626
Gene: SLC25A4 HGNC NCBI

Linked Data

gnomAD v4: 4-185143451-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143456dup , CM000666.2:g.185143456dup GRCh38
NC_000004.11:g.186064610dup , CM000666.1:g.186064610dup GRCh37
NC_000004.10:g.186301604dup NCBI36
NG_013001.1:g.5194dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.84dup MANE Select ENSP00000281456.5:p.Ile29HisfsTer20
ENST00000281456.10:c.84dup ENSP00000281456.5:p.Ile29HisfsTer20
ENST00000491736.1:c.84dup ENSP00000476711.1:p.Ile29HisfsTer20
NM_001151.3:c.84dup NP_001142.2:p.Ile29HisfsTer20
NM_001151.4:c.84dup MANE Select NP_001142.2:p.Ile29HisfsTer20
Search 100 bp 5'
Search 100 bp 3'