Canonical Allele Identifier: CA8200176

Gene: SLC38A8

Linked Data

• dbSNP Id: rs771106476
• ExAC: 16:84065509 GC / G
• gnomAD v2: 16-84065509-GC-G
• gnomAD v4: 16-84031904-GC-G
• MyVariant Identifiers: chr16:g.84065510del (hg19) ; chr16:g.84031905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84031906del , CM000678.2:g.84031906del	GRCh38
NC_000016.9:g.84065511del , CM000678.1:g.84065511del	GRCh37
NC_000016.8:g.82623012del	NCBI36
NG_034136.1:g.15253del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299709.8:c.594del MANE Select	ENSP00000299709.3:p.Trp198CysfsTer13
ENST00000299709.7:c.594del	ENSP00000299709.3:p.Trp198CysfsTer13
ENST00000568178.1:c.594del	ENSP00000457737.1:p.Trp198CysfsTer13
NM_001080442.2:c.594del	NP_001073911.1:p.Trp198CysfsTer13
XM_011522872.1:c.594del	XP_011521174.1:p.Trp198CysfsTer13
XM_017022946.1:c.594del	XP_016878435.1:p.Trp198CysfsTer13
NM_001080442.3:c.594del MANE Select	NP_001073911.1:p.Trp198CysfsTer13