Canonical Allele Identifier: CA112005426
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs554804002
gnomAD v3: 4-185144685-C-T
gnomAD v4: 4-185144685-C-T
MyVariant Identifiers: chr4:g.186065839C>T (hg19) chr4:g.185144685C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144685C>T , CM000666.2:g.185144685C>T GRCh38
NC_000004.11:g.186065839C>T , CM000666.1:g.186065839C>T GRCh37
NC_000004.10:g.186302833C>T NCBI36
NG_013001.1:g.6423C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.112-79C>T MANE Select ENSP00000281456.5:n.112-79C>T
ENST00000281456.10:c.112-79C>T ENSP00000281456.5:n.112-79C>T
ENST00000491736.1:c.112-79C>T ENSP00000476711.1:n.112-79C>T
NM_001151.3:c.112-79C>T NP_001142.2:n.112-79C>T
NM_001151.4:c.112-79C>T MANE Select NP_001142.2:n.112-79C>T
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