Canonical Allele Identifier: CA10185096
Gene: SLC35E4 HGNC NCBI
ClinVar RCV:
RCV004459290
ClinVar Variation:
3164402
dbSNP:
557398990
gnomAD v2:
22:31032490 T / C
gnomAD v3:
22:30636503 T / C
gnomAD v4:
chr22-30636503-T-C
Joint Max Group AF 0.00034844 (AMR)
Genomes Max Group AF 0.00005845 (NFE)
Exomes Max Group AF 0.00043188 (AMR)
MyVariant.info:
GRCh38 chr22:g.30636503T>C
GRCh37 chr22:g.31032490T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30636503T>C , CM000684.2:g.30636503T>C GRCh38
NC_000022.10:g.31032490T>C , CM000684.1:g.31032490T>C GRCh37
NC_000022.9:g.29362490T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343605.5:c.53T>C MANE Select ENSP00000339626.4:p.Val18Ala
ENST00000343605.4:c.53T>C ENSP00000339626.4:p.Val18Ala
ENST00000406566.1:c.53T>C ENSP00000384377.1:p.Val18Ala
NM_001001479.2:c.53T>C NP_001001479.1:p.Val18Ala
NM_001001479.3:c.53T>C NP_001001479.1:p.Val18Ala
NM_001318370.1:c.53T>C NP_001305299.1:p.Val18Ala
NM_001318371.1:c.53T>C NP_001305300.1:p.Val18Ala
XM_017028794.1:c.53T>C XP_016884283.1:p.Val18Ala
XM_017028795.1:c.53T>C XP_016884284.1:p.Val18Ala
NM_001001479.4:c.53T>C MANE Select NP_001001479.1:p.Val18Ala
NM_001318371.2:c.53T>C NP_001305300.1:p.Val18Ala
NM_001318370.2:c.53T>C NP_001305299.1:p.Val18Ala
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