Canonical Allele Identifier: CA150835
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 125443
ClinVar RCV Id: RCV000111468
dbSNP Id: rs587777254
MyVariant Identifiers: chr16:g.84056478A>T (hg19) chr16:g.84022873A>T (hg38)
PubMed: PMID:15466012 PMID:24290379
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84022873A>T , CM000678.2:g.84022873A>T GRCh38
NC_000016.9:g.84056478A>T , CM000678.1:g.84056478A>T GRCh37
NC_000016.8:g.82613979A>T NCBI36
NG_034136.1:g.24285T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299709.8:c.707T>A MANE Select ENSP00000299709.3:p.Val236Asp
ENST00000299709.7:c.707T>A ENSP00000299709.3:p.Val236Asp
ENST00000568178.1:c.707T>A ENSP00000457737.1:p.Val236Asp
NM_001080442.2:c.707T>A NP_001073911.1:p.Val236Asp
XM_011522872.1:c.707T>A XP_011521174.1:p.Val236Asp
XM_017022946.1:c.707T>A XP_016878435.1:p.Val236Asp
NM_001080442.3:c.707T>A MANE Select NP_001073911.1:p.Val236Asp
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