Canonical Allele Identifier: CA1071901988
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1953345
ClinVar RCV Id: RCV002681772
dbSNP Id: rs1734381610
gnomAD v3: 4-185143498-G-A
gnomAD v4: 4-185143498-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143498G>A , CM000666.2:g.185143498G>A GRCh38
NC_000004.11:g.186064652G>A , CM000666.1:g.186064652G>A GRCh37
NC_000004.10:g.186301646G>A NCBI36
NG_013001.1:g.5236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.111+15G>A MANE Select ENSP00000281456.5:n.111+15G>A
ENST00000281456.10:c.111+15G>A ENSP00000281456.5:n.111+15G>A
ENST00000491736.1:c.111+15G>A ENSP00000476711.1:n.111+15G>A
NM_001151.3:c.111+15G>A NP_001142.2:n.111+15G>A
NM_001151.4:c.111+15G>A MANE Select NP_001142.2:n.111+15G>A
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