Canonical Allele Identifier: CA623841694

Gene: SLC38A8

Linked Data

• dbSNP Id: rs1451049225
• gnomAD v2: 16-84065473-T-TC
• gnomAD v4: 16-84031868-T-TC
• MyVariant Identifiers: chr16:g.84065473_84065474insC (hg19) ; chr16:g.84031868_84031869insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84031869dup , CM000678.2:g.84031869dup	GRCh38
NC_000016.9:g.84065474dup , CM000678.1:g.84065474dup	GRCh37
NC_000016.8:g.82622975dup	NCBI36
NG_034136.1:g.15289dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299709.8:c.630dup MANE Select	ENSP00000299709.3:p.Ser211GlufsTer?
ENST00000299709.7:c.630dup	ENSP00000299709.3:p.Ser211GlufsTer?
ENST00000568178.1:c.630dup	ENSP00000457737.1:p.Ser211GlufsTer?
NM_001080442.2:c.630dup	NP_001073911.1:p.Ser211GlufsTer?
XM_011522872.1:c.630dup	XP_011521174.1:p.Ser211GlufsTer?
XM_017022946.1:c.630dup	XP_016878435.1:p.Ser211GlufsTer?
NM_001080442.3:c.630dup MANE Select	NP_001073911.1:p.Ser211GlufsTer?