Canonical Allele Identifier: CA396938530
Gene: SLC38A8 HGNC NCBI

Linked Data

dbSNP Id: rs1268744843
gnomAD v2: 16-84065505-T-G
gnomAD v4: 16-84031900-T-G
MyVariant Identifiers: chr16:g.84065505T>G (hg19) chr16:g.84031900T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031900T>G , CM000678.2:g.84031900T>G GRCh38
NC_000016.9:g.84065505T>G , CM000678.1:g.84065505T>G GRCh37
NC_000016.8:g.82623006T>G NCBI36
NG_034136.1:g.15258A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.599A>C MANE Select ENSP00000299709.3:p.Gln200Pro
ENST00000299709.7:c.599A>C ENSP00000299709.3:p.Gln200Pro
ENST00000568178.1:c.599A>C ENSP00000457737.1:p.Gln200Pro
NM_001080442.2:c.599A>C NP_001073911.1:p.Gln200Pro
XM_011522872.1:c.599A>C XP_011521174.1:p.Gln200Pro
XM_017022946.1:c.599A>C XP_016878435.1:p.Gln200Pro
NM_001080442.3:c.599A>C MANE Select NP_001073911.1:p.Gln200Pro
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