Canonical Allele Identifier: CA8200347

Gene: SLC38A8

Linked Data

• ClinVar Variation Id: 383962
• ClinVar RCV Id: RCV000434287 ; RCV000515654
• dbSNP Id: rs760391436
• ExAC: 16:84070302 C / T
• gnomAD v2: 16-84070302-C-T
• gnomAD v3: 16-84036697-C-T
• gnomAD v4: 16-84036697-C-T
• MyVariant Identifiers: chr16:g.84070302C>T (hg19) ; chr16:g.84036697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84036697C>T , CM000678.2:g.84036697C>T	GRCh38
NC_000016.9:g.84070302C>T , CM000678.1:g.84070302C>T	GRCh37
NC_000016.8:g.82627803C>T	NCBI36
NG_034136.1:g.10461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299709.8:c.388+5G>A MANE Select	ENSP00000299709.3:n.388+5G>A
ENST00000299709.7:c.388+5G>A	ENSP00000299709.3:n.388+5G>A
ENST00000568178.1:c.388+5G>A	ENSP00000457737.1:n.388+5G>A
ENST00000569816.1:c.49+5G>A	ENSP00000455085.1:n.49+5G>A
NM_001080442.2:c.388+5G>A	NP_001073911.1:n.388+5G>A
XM_011522872.1:c.388+5G>A	XP_011521174.1:n.388+5G>A
XM_017022946.1:c.388+5G>A	XP_016878435.1:n.388+5G>A
NM_001080442.3:c.388+5G>A MANE Select	NP_001073911.1:n.388+5G>A