Canonical Allele Identifier: CA396938768
Gene: SLC38A8 HGNC NCBI

Linked Data

dbSNP Id: rs1226433604
gnomAD v2: 16-84065547-T-A
gnomAD v4: 16-84031942-T-A
MyVariant Identifiers: chr16:g.84065547T>A (hg19) chr16:g.84031942T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031942T>A , CM000678.2:g.84031942T>A GRCh38
NC_000016.9:g.84065547T>A , CM000678.1:g.84065547T>A GRCh37
NC_000016.8:g.82623048T>A NCBI36
NG_034136.1:g.15216A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.557A>T MANE Select ENSP00000299709.3:p.Tyr186Phe
ENST00000299709.7:c.557A>T ENSP00000299709.3:p.Tyr186Phe
ENST00000568178.1:c.557A>T ENSP00000457737.1:p.Tyr186Phe
NM_001080442.2:c.557A>T NP_001073911.1:p.Tyr186Phe
XM_011522872.1:c.557A>T XP_011521174.1:p.Tyr186Phe
XM_017022946.1:c.557A>T XP_016878435.1:p.Tyr186Phe
NM_001080442.3:c.557A>T MANE Select NP_001073911.1:p.Tyr186Phe
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