Canonical Allele Identifier: CA14230833
Gene: SLC38A8 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.84013110A>G
GRCh37 chr16:g.84046715A>G
gnomAD v2:
16:84046715 A / G
gnomAD v3:
16:84013110 A / G
gnomAD v4:
chr16-84013110-A-G
Joint Max Group AF 0.32527266 (AFR)
Genomes Max Group AF 0.32255132 (AFR)
Exomes Max Group AF 0.32549124 (AFR)
dbSNP:
11864146
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84013110A>G , CM000678.2:g.84013110A>G GRCh38
NC_000016.9:g.84046715A>G , CM000678.1:g.84046715A>G GRCh37
NC_000016.8:g.82604216A>G NCBI36
NG_034136.1:g.34048T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.1163-58T>C MANE Select ENSP00000299709.3:n.1163-58T>C
ENST00000299709.7:c.1163-58T>C ENSP00000299709.3:n.1163-58T>C
ENST00000568003.1:n.239-58T>C
NM_001080442.2:c.1163-58T>C NP_001073911.1:n.1163-58T>C
XM_011522872.1:c.1163-58T>C XP_011521174.1:n.1163-58T>C
XM_017022946.1:c.1163-58T>C XP_016878435.1:n.1163-58T>C
NM_001080442.3:c.1163-58T>C MANE Select NP_001073911.1:n.1163-58T>C
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