Canonical Allele Identifier: CA358896100
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs1268283735
gnomAD v2: 4-186066005-T-C
gnomAD v4: 4-185144851-T-C
MyVariant Identifiers: chr4:g.186066005T>C (hg19) chr4:g.185144851T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144851T>C , CM000666.2:g.185144851T>C GRCh38
NC_000004.11:g.186066005T>C , CM000666.1:g.186066005T>C GRCh37
NC_000004.10:g.186302999T>C NCBI36
NG_013001.1:g.6589T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000281456.11:c.199T>C MANE Select ENSP00000281456.5:p.Phe67Leu
ENST00000281456.10:c.199T>C ENSP00000281456.5:p.Phe67Leu
ENST00000491736.1:c.199T>C ENSP00000476711.1:p.Phe67Leu
NM_001151.3:c.199T>C NP_001142.2:p.Phe67Leu
NM_001151.4:c.199T>C MANE Select NP_001142.2:p.Phe67Leu
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