Canonical Allele Identifier: CA8200191
Gene: SLC38A8 HGNC NCBI

Linked Data

dbSNP Id: rs776569507
ExAC: 16:84065554 C / G
gnomAD v2: 16-84065554-C-G
gnomAD v3: 16-84031949-C-G
gnomAD v4: 16-84031949-C-G
MyVariant Identifiers: chr16:g.84065554C>G (hg19) chr16:g.84031949C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031949C>G , CM000678.2:g.84031949C>G GRCh38
NC_000016.9:g.84065554C>G , CM000678.1:g.84065554C>G GRCh37
NC_000016.8:g.82623055C>G NCBI36
NG_034136.1:g.15209G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.550G>C MANE Select ENSP00000299709.3:p.Ala184Pro
ENST00000299709.7:c.550G>C ENSP00000299709.3:p.Ala184Pro
ENST00000568178.1:c.550G>C ENSP00000457737.1:p.Ala184Pro
NM_001080442.2:c.550G>C NP_001073911.1:p.Ala184Pro
XM_011522872.1:c.550G>C XP_011521174.1:p.Ala184Pro
XM_017022946.1:c.550G>C XP_016878435.1:p.Ala184Pro
NM_001080442.3:c.550G>C MANE Select NP_001073911.1:p.Ala184Pro
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