Canonical Allele Identifier: CA496764408
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2782880
ClinVar RCV Id: RCV003665747
dbSNP Id: rs1351631293
gnomAD v2: 16-84065486-G-T
gnomAD v3: 16-84031881-G-T
gnomAD v4: 16-84031881-G-T
MyVariant Identifiers: chr16:g.84065486G>T (hg19) chr16:g.84031881G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031881G>T , CM000678.2:g.84031881G>T GRCh38
NC_000016.9:g.84065486G>T , CM000678.1:g.84065486G>T GRCh37
NC_000016.8:g.82622987G>T NCBI36
NG_034136.1:g.15277C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.618C>A MANE Select ENSP00000299709.3:p.Ser206=
ENST00000299709.7:c.618C>A ENSP00000299709.3:p.Ser206=
ENST00000568178.1:c.618C>A ENSP00000457737.1:p.Ser206=
NM_001080442.2:c.618C>A NP_001073911.1:p.Ser206=
XM_011522872.1:c.618C>A XP_011521174.1:p.Ser206=
XM_017022946.1:c.618C>A XP_016878435.1:p.Ser206=
NM_001080442.3:c.618C>A MANE Select NP_001073911.1:p.Ser206=
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