Canonical Allele Identifier: CA496764445
Gene: SLC38A8 HGNC NCBI

Linked Data

dbSNP Id: rs1331208387
gnomAD v2: 16-84065545-G-A
gnomAD v4: 16-84031940-G-A
MyVariant Identifiers: chr16:g.84065545G>A (hg19) chr16:g.84031940G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031940G>A , CM000678.2:g.84031940G>A GRCh38
NC_000016.9:g.84065545G>A , CM000678.1:g.84065545G>A GRCh37
NC_000016.8:g.82623046G>A NCBI36
NG_034136.1:g.15218C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.559C>T MANE Select ENSP00000299709.3:p.Leu187=
ENST00000299709.7:c.559C>T ENSP00000299709.3:p.Leu187=
ENST00000568178.1:c.559C>T ENSP00000457737.1:p.Leu187=
NM_001080442.2:c.559C>T NP_001073911.1:p.Leu187=
XM_011522872.1:c.559C>T XP_011521174.1:p.Leu187=
XM_017022946.1:c.559C>T XP_016878435.1:p.Leu187=
NM_001080442.3:c.559C>T MANE Select NP_001073911.1:p.Leu187=
Search 100 bp 5'
Search 100 bp 3'