Canonical Allele Identifier: CA496764406
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2863762
ClinVar RCV Id: RCV003702440
MyVariant Identifiers: chr16:g.84065480A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031875A>G , CM000678.2:g.84031875A>G GRCh38
NC_000016.9:g.84065480A>G , CM000678.1:g.84065480A>G GRCh37
NC_000016.8:g.82622981A>G NCBI36
NG_034136.1:g.15283T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.624T>C MANE Select ENSP00000299709.3:p.Pro208=
ENST00000299709.7:c.624T>C ENSP00000299709.3:p.Pro208=
ENST00000568178.1:c.624T>C ENSP00000457737.1:p.Pro208=
NM_001080442.2:c.624T>C NP_001073911.1:p.Pro208=
XM_011522872.1:c.624T>C XP_011521174.1:p.Pro208=
XM_017022946.1:c.624T>C XP_016878435.1:p.Pro208=
NM_001080442.3:c.624T>C MANE Select NP_001073911.1:p.Pro208=
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