Canonical Allele Identifier: CA10633767
Gene: SLC25A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310791
ClinVar RCV Id: RCV000402654 RCV001552070
dbSNP Id: rs115763433
gnomAD v2: 12-98987431-G-A
gnomAD v3: 12-98593653-G-A
gnomAD v4: 12-98593653-G-A
MyVariant Identifiers: chr12:g.98987431G>A (hg19) chr12:g.98593653G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.98593653G>A , CM000674.2:g.98593653G>A GRCh38
NC_000012.11:g.98987431G>A , CM000674.1:g.98987431G>A GRCh37
NC_000012.10:g.97511562G>A NCBI36
NG_011702.1:g.5029G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000188376.9:c.-326G>A ENSP00000188376.5:n.-326G>A
ENST00000228318.7:c.-92G>A ENSP00000228318.3:n.-92G>A
ENST00000401722.7:c.-88G>A ENSP00000383898.3:n.-88G>A
ENST00000551917.5:c.-88G>A ENSP00000447310.1:n.-88G>A
NM_002635.3:c.-92G>A NP_002626.1:n.-92G>A
NM_005888.3:c.-92G>A NP_005879.1:n.-92G>A
NM_213611.2:c.-326G>A NP_998776.1:n.-326G>A
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