Canonical Allele Identifier: CA396938766
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2740171
ClinVar RCV Id: RCV003573671

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031941G>C , CM000678.2:g.84031941G>C GRCh38
NC_000016.9:g.84065546G>C , CM000678.1:g.84065546G>C GRCh37
NC_000016.8:g.82623047G>C NCBI36
NG_034136.1:g.15217C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.558C>G MANE Select ENSP00000299709.3:p.Tyr186Ter
ENST00000299709.7:c.558C>G ENSP00000299709.3:p.Tyr186Ter
ENST00000568178.1:c.558C>G ENSP00000457737.1:p.Tyr186Ter
NM_001080442.2:c.558C>G NP_001073911.1:p.Tyr186Ter
XM_011522872.1:c.558C>G XP_011521174.1:p.Tyr186Ter
XM_017022946.1:c.558C>G XP_016878435.1:p.Tyr186Ter
NM_001080442.3:c.558C>G MANE Select NP_001073911.1:p.Tyr186Ter