Canonical Allele Identifier: CA8200187
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3008070
ClinVar RCV Id: RCV003866733
dbSNP Id: rs758942883
ExAC: 16:84065534 G / C
gnomAD v2: 16-84065534-G-C
gnomAD v4: 16-84031929-G-C
MyVariant Identifiers: chr16:g.84065534G>C (hg19) chr16:g.84031929G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031929G>C , CM000678.2:g.84031929G>C GRCh38
NC_000016.9:g.84065534G>C , CM000678.1:g.84065534G>C GRCh37
NC_000016.8:g.82623035G>C NCBI36
NG_034136.1:g.15229C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.570C>G MANE Select ENSP00000299709.3:p.Val190=
ENST00000299709.7:c.570C>G ENSP00000299709.3:p.Val190=
ENST00000568178.1:c.570C>G ENSP00000457737.1:p.Val190=
NM_001080442.2:c.570C>G NP_001073911.1:p.Val190=
XM_011522872.1:c.570C>G XP_011521174.1:p.Val190=
XM_017022946.1:c.570C>G XP_016878435.1:p.Val190=
NM_001080442.3:c.570C>G MANE Select NP_001073911.1:p.Val190=
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