Canonical Allele Identifier: CA10654924
Gene: SLC38A8 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.84017290G>C
GRCh37 chr16:g.84050895G>C
gnomAD v2:
16:84050895 G / C
gnomAD v3:
16:84017290 G / C
gnomAD v4:
chr16-84017290-G-C
Joint Max Group AF 0.00001746 (AFR)
Exomes Max Group AF 0.00002375 (AFR)
ClinVar RCV:
RCV000408871
ClinVar Variation:
369950
dbSNP:
1057516193
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84017290G>C , CM000678.2:g.84017290G>C GRCh38
NC_000016.9:g.84050895G>C , CM000678.1:g.84050895G>C GRCh37
NC_000016.8:g.82608396G>C NCBI36
NG_034136.1:g.29868C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.806-3C>G MANE Select ENSP00000299709.3:n.806-3C>G
ENST00000299709.7:c.806-3C>G ENSP00000299709.3:n.806-3C>G
NM_001080442.2:c.806-3C>G NP_001073911.1:n.806-3C>G
XM_011522872.1:c.806-3C>G XP_011521174.1:n.806-3C>G
XM_017022946.1:c.806-3C>G XP_016878435.1:n.806-3C>G
NM_001080442.3:c.806-3C>G MANE Select NP_001073911.1:n.806-3C>G
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