Canonical Allele Identifier: CA112005536
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs199833605
gnomAD v3: 4-185144766-C-G
gnomAD v4: 4-185144766-C-G
MyVariant Identifiers: chr4:g.186065920C>G (hg19) chr4:g.185144766C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144766C>G , CM000666.2:g.185144766C>G GRCh38
NC_000004.11:g.186065920C>G , CM000666.1:g.186065920C>G GRCh37
NC_000004.10:g.186302914C>G NCBI36
NG_013001.1:g.6504C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.114C>G MANE Select ENSP00000281456.5:p.Val38=
ENST00000281456.10:c.114C>G ENSP00000281456.5:p.Val38=
ENST00000491736.1:c.114C>G ENSP00000476711.1:p.Val38=
NM_001151.3:c.114C>G NP_001142.2:p.Val38=
NM_001151.4:c.114C>G MANE Select NP_001142.2:p.Val38=
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