Canonical Allele Identifier: CA8200180
Gene: SLC38A8 HGNC NCBI

Linked Data

dbSNP Id: rs751148328
ExAC: 16:84065520 T / A
gnomAD v2: 16-84065520-T-A
gnomAD v3: 16-84031915-T-A
gnomAD v4: 16-84031915-T-A
MyVariant Identifiers: chr16:g.84065520T>A (hg19) chr16:g.84031915T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031915T>A , CM000678.2:g.84031915T>A GRCh38
NC_000016.9:g.84065520T>A , CM000678.1:g.84065520T>A GRCh37
NC_000016.8:g.82623021T>A NCBI36
NG_034136.1:g.15243A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.584A>T MANE Select ENSP00000299709.3:p.Tyr195Phe
ENST00000299709.7:c.584A>T ENSP00000299709.3:p.Tyr195Phe
ENST00000568178.1:c.584A>T ENSP00000457737.1:p.Tyr195Phe
NM_001080442.2:c.584A>T NP_001073911.1:p.Tyr195Phe
XM_011522872.1:c.584A>T XP_011521174.1:p.Tyr195Phe
XM_017022946.1:c.584A>T XP_016878435.1:p.Tyr195Phe
NM_001080442.3:c.584A>T MANE Select NP_001073911.1:p.Tyr195Phe
Search 100 bp 5'
Search 100 bp 3'