Canonical Allele Identifier: CA979905365
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2782588
ClinVar RCV Id: RCV003664059
dbSNP Id: rs2085243265
gnomAD v3: 16-84031855-C-G
gnomAD v4: 16-84031855-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031855C>G , CM000678.2:g.84031855C>G GRCh38
NC_000016.9:g.84065460C>G , CM000678.1:g.84065460C>G GRCh37
NC_000016.8:g.82622961C>G NCBI36
NG_034136.1:g.15303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.632+12G>C MANE Select ENSP00000299709.3:n.632+12G>C
ENST00000299709.7:c.632+12G>C ENSP00000299709.3:n.632+12G>C
ENST00000568178.1:c.632+12G>C ENSP00000457737.1:n.632+12G>C
NM_001080442.2:c.632+12G>C NP_001073911.1:n.632+12G>C
XM_011522872.1:c.632+12G>C XP_011521174.1:n.632+12G>C
XM_017022946.1:c.632+12G>C XP_016878435.1:n.632+12G>C
NM_001080442.3:c.632+12G>C MANE Select NP_001073911.1:n.632+12G>C
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