Canonical Allele Identifier: CA150839
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 125447
dbSNP Id: rs149592537

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031901G>A , CM000678.2:g.84031901G>A GRCh38
NC_000016.9:g.84065506G>A , CM000678.1:g.84065506G>A GRCh37
NC_000016.8:g.82623007G>A NCBI36
NG_034136.1:g.15257C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299709.8:c.598C>T MANE Select ENSP00000299709.3:p.Gln200Ter
ENST00000299709.7:c.598C>T ENSP00000299709.3:p.Gln200Ter
ENST00000568178.1:c.598C>T ENSP00000457737.1:p.Gln200Ter
NM_001080442.2:c.598C>T NP_001073911.1:p.Gln200Ter
XM_011522872.1:c.598C>T XP_011521174.1:p.Gln200Ter
XM_017022946.1:c.598C>T XP_016878435.1:p.Gln200Ter
NM_001080442.3:c.598C>T MANE Select NP_001073911.1:p.Gln200Ter