Canonical Allele Identifier: CA396938307
Gene: SLC38A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 988806
ClinVar RCV Id: RCV001270484
dbSNP Id: rs1473492838
gnomAD v4: 16-84031866-C-T
MyVariant Identifiers: chr16:g.84065471C>T (hg19) chr16:g.84031866C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031866C>T , CM000678.2:g.84031866C>T GRCh38
NC_000016.9:g.84065471C>T , CM000678.1:g.84065471C>T GRCh37
NC_000016.8:g.82622972C>T NCBI36
NG_034136.1:g.15292G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.632+1G>A MANE Select ENSP00000299709.3:n.632+1G>A
ENST00000299709.7:c.632+1G>A ENSP00000299709.3:n.632+1G>A
ENST00000568178.1:c.632+1G>A ENSP00000457737.1:n.632+1G>A
NM_001080442.2:c.632+1G>A NP_001073911.1:n.632+1G>A
XM_011522872.1:c.632+1G>A XP_011521174.1:n.632+1G>A
XM_017022946.1:c.632+1G>A XP_016878435.1:n.632+1G>A
NM_001080442.3:c.632+1G>A MANE Select NP_001073911.1:n.632+1G>A
Search 100 bp 5'
Search 100 bp 3'