Canonical Allele Identifier: CA8200203
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2982903
ClinVar RCV Id: RCV003845534
dbSNP Id: rs11865628
ExAC: 16:84065586 C / A
gnomAD v2: 16-84065586-C-A
gnomAD v3: 16-84031981-C-A
gnomAD v4: 16-84031981-C-A
MyVariant Identifiers: chr16:g.84065586C>A (hg19) chr16:g.84031981C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031981C>A , CM000678.2:g.84031981C>A GRCh38
NC_000016.9:g.84065586C>A , CM000678.1:g.84065586C>A GRCh37
NC_000016.8:g.82623087C>A NCBI36
NG_034136.1:g.15177G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.531-13G>T MANE Select ENSP00000299709.3:n.531-13G>T
ENST00000299709.7:c.531-13G>T ENSP00000299709.3:n.531-13G>T
ENST00000568178.1:c.531-13G>T ENSP00000457737.1:n.531-13G>T
NM_001080442.2:c.531-13G>T NP_001073911.1:n.531-13G>T
XM_011522872.1:c.531-13G>T XP_011521174.1:n.531-13G>T
XM_017022946.1:c.531-13G>T XP_016878435.1:n.531-13G>T
NM_001080442.3:c.531-13G>T MANE Select NP_001073911.1:n.531-13G>T
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