Canonical Allele Identifier: CA3156439
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs749367984
ExAC: 4:186066033 C / T
gnomAD v2: 4-186066033-C-T
gnomAD v4: 4-185144879-C-T
MyVariant Identifiers: chr4:g.186066033C>T (hg19) chr4:g.185144879C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144879C>T , CM000666.2:g.185144879C>T GRCh38
NC_000004.11:g.186066033C>T , CM000666.1:g.186066033C>T GRCh37
NC_000004.10:g.186303027C>T NCBI36
NG_013001.1:g.6617C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.227C>T MANE Select ENSP00000281456.5:p.Ala76Val
ENST00000281456.10:c.227C>T ENSP00000281456.5:p.Ala76Val
ENST00000491736.1:c.227C>T ENSP00000476711.1:p.Ala76Val
NM_001151.3:c.227C>T NP_001142.2:p.Ala76Val
NM_001151.4:c.227C>T MANE Select NP_001142.2:p.Ala76Val
Search 100 bp 5'
Search 100 bp 3'