Canonical Allele Identifier: CA121917
Gene: SLC25A20 HGNC NCBI

Linked Data

ClinVar Variation Id: 12137
ClinVar RCV Id: RCV000012920 RCV000427395
dbSNP Id: rs541208710
ExAC: 3:48921567 A / C
gnomAD v2: 3-48921567-A-C
gnomAD v3: 3-48884134-A-C
gnomAD v4: 3-48884134-A-C
MyVariant Identifiers: chr3:g.48921567A>C (hg19) chr3:g.48884134A>C (hg38)
PubMed: PMID:10697964 PMID:11592821 PMID:12559850 PMID:17277394 PMID:24088670 PMID:25459972 PMID:27066551
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48884134A>C , CM000665.2:g.48884134A>C GRCh38
NC_000003.11:g.48921567A>C , CM000665.1:g.48921567A>C GRCh37
NC_000003.10:g.48896571A>C NCBI36
NG_008171.1:g.19763T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319017.5:c.199-10T>G MANE Select ENSP00000326305.4:n.199-10T>G
ENST00000319017.4:c.199-10T>G ENSP00000326305.4:n.199-10T>G
ENST00000430379.5:c.198+7846T>G ENSP00000388986.1:n.198+7846T>G
ENST00000440964.1:c.*29-10T>G ENSP00000388563.1:n.*29-10T>G
NM_000387.5:c.199-10T>G NP_000378.1:n.199-10T>G
XM_006713327.1:c.199-10T>G XP_006713390.1:n.199-10T>G
NM_000387.6:c.199-10T>G MANE Select NP_000378.1:n.199-10T>G
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