Canonical Allele Identifier: CA112005676
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303727
ClinVar RCV Id: RCV001758020
dbSNP Id: rs562465418
gnomAD v3: 4-185144880-C-T
gnomAD v4: 4-185144880-C-T
MyVariant Identifiers: chr4:g.186066034C>T (hg19) chr4:g.185144880C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144880C>T , CM000666.2:g.185144880C>T GRCh38
NC_000004.11:g.186066034C>T , CM000666.1:g.186066034C>T GRCh37
NC_000004.10:g.186303028C>T NCBI36
NG_013001.1:g.6618C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000281456.11:c.228C>T MANE Select ENSP00000281456.5:p.Ala76=
ENST00000281456.10:c.228C>T ENSP00000281456.5:p.Ala76=
ENST00000491736.1:c.228C>T ENSP00000476711.1:p.Ala76=
NM_001151.3:c.228C>T NP_001142.2:p.Ala76=
NM_001151.4:c.228C>T MANE Select NP_001142.2:p.Ala76=
Search 100 bp 5'
Search 100 bp 3'