Canonical Allele Identifier: CA3156435
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1966912
ClinVar RCV Id: RCV002721644
dbSNP Id: rs779998539
ExAC: 4:186065970 T / C
gnomAD v2: 4-186065970-T-C
gnomAD v3: 4-185144816-T-C
gnomAD v4: 4-185144816-T-C
MyVariant Identifiers: chr4:g.186065970T>C (hg19) chr4:g.185144816T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144816T>C , CM000666.2:g.185144816T>C GRCh38
NC_000004.11:g.186065970T>C , CM000666.1:g.186065970T>C GRCh37
NC_000004.10:g.186302964T>C NCBI36
NG_013001.1:g.6554T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.164T>C MANE Select ENSP00000281456.5:p.Ile55Thr
ENST00000281456.10:c.164T>C ENSP00000281456.5:p.Ile55Thr
ENST00000491736.1:c.164T>C ENSP00000476711.1:p.Ile55Thr
NM_001151.3:c.164T>C NP_001142.2:p.Ile55Thr
NM_001151.4:c.164T>C MANE Select NP_001142.2:p.Ile55Thr
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