Canonical Allele Identifier: CA396938553

Gene: SLC38A8

Linked Data

• dbSNP Id: rs1330374197
• gnomAD v2: 16-84065509-G-A
• gnomAD v3: 16-84031904-G-A
• gnomAD v4: 16-84031904-G-A
• MyVariant Identifiers: chr16:g.84065509G>A (hg19) ; chr16:g.84065509_84065510delinsAC (hg19) ; chr16:g.84031904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84031904G>A , CM000678.2:g.84031904G>A	GRCh38
NC_000016.9:g.84065509G>A , CM000678.1:g.84065509G>A	GRCh37
NC_000016.8:g.82623010G>A	NCBI36
NG_034136.1:g.15254C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299709.8:c.595C>T MANE Select	ENSP00000299709.3:p.Pro199Ser
ENST00000299709.7:c.595C>T	ENSP00000299709.3:p.Pro199Ser
ENST00000568178.1:c.595C>T	ENSP00000457737.1:p.Pro199Ser
NM_001080442.2:c.595C>T	NP_001073911.1:p.Pro199Ser
XM_011522872.1:c.595C>T	XP_011521174.1:p.Pro199Ser
XM_017022946.1:c.595C>T	XP_016878435.1:p.Pro199Ser
NM_001080442.3:c.595C>T MANE Select	NP_001073911.1:p.Pro199Ser