Canonical Allele Identifier: CA442614624
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs1057520639
gnomAD v4: 4-185143384-C-T
MyVariant Identifiers: chr4:g.186064538C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143384C>T , CM000666.2:g.185143384C>T GRCh38
NC_000004.11:g.186064538C>T , CM000666.1:g.186064538C>T GRCh37
NC_000004.10:g.186301532C>T NCBI36
NG_013001.1:g.5122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.12C>T MANE Select ENSP00000281456.5:p.His4=
ENST00000281456.10:c.12C>T ENSP00000281456.5:p.His4=
ENST00000491736.1:c.12C>T ENSP00000476711.1:p.His4=
NM_001151.3:c.12C>T NP_001142.2:p.His4=
NM_001151.4:c.12C>T MANE Select NP_001142.2:p.His4=
Search 100 bp 5'
Search 100 bp 3'