Canonical Allele Identifier: CA8200192
Gene: SLC38A8 HGNC NCBI

Linked Data

dbSNP Id: rs774295720
ExAC: 16:84065558 C / CA
gnomAD v2: 16-84065558-C-CA
gnomAD v3: 16-84031953-C-CA
gnomAD v4: 16-84031953-C-CA
MyVariant Identifiers: chr16:g.84065558_84065559insA (hg19) chr16:g.84031953_84031954insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84031954dup , CM000678.2:g.84031954dup GRCh38
NC_000016.9:g.84065559dup , CM000678.1:g.84065559dup GRCh37
NC_000016.8:g.82623060dup NCBI36
NG_034136.1:g.15204dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299709.8:c.545dup MANE Select ENSP00000299709.3:p.Ala183GlyfsTer23
ENST00000299709.7:c.545dup ENSP00000299709.3:p.Ala183GlyfsTer23
ENST00000568178.1:c.545dup ENSP00000457737.1:p.Ala183GlyfsTer23
NM_001080442.2:c.545dup NP_001073911.1:p.Ala183GlyfsTer23
XM_011522872.1:c.545dup XP_011521174.1:p.Ala183GlyfsTer23
XM_017022946.1:c.545dup XP_016878435.1:p.Ala183GlyfsTer23
NM_001080442.3:c.545dup MANE Select NP_001073911.1:p.Ala183GlyfsTer23
Search 100 bp 5'
Search 100 bp 3'