Canonical Allele Identifier: CA395997379

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055436390
• gnomAD v4: 16-56894566-A-G
• MyVariant Identifiers: chr16:g.56928478A>G (hg19) ; chr16:g.56894566A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894566A>G , CM000678.2:g.56894566A>G	GRCh38
NC_000016.9:g.56928478A>G , CM000678.1:g.56928478A>G	GRCh37
NC_000016.8:g.55485979A>G	NCBI36
NG_009386.1:g.34360A>G
NG_009386.2:g.34360A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2557A>G MANE Select	ENSP00000456149.2:p.Lys853Glu
ENST00000262502.5:c.2554A>G	ENSP00000262502.5:p.Lys852Glu
ENST00000438926.6:c.2584A>G	ENSP00000402152.2:p.Lys862Glu
ENST00000563236.5:c.2557A>G	ENSP00000456149.1:p.Lys853Glu
ENST00000566786.5:c.2581A>G	ENSP00000457552.1:p.Lys861Glu
NM_000339.2:c.2584A>G	NP_000330.2:p.Lys862Glu
NM_001126107.1:c.2581A>G	NP_001119579.1:p.Lys861Glu
NM_001126108.1:c.2557A>G	NP_001119580.1:p.Lys853Glu
XM_005256119.1:c.2554A>G	XP_005256176.1:p.Lys852Glu
XM_005256119.2:c.2554A>G	XP_005256176.1:p.Lys852Glu
NM_000339.3:c.2584A>G	NP_000330.3:p.Lys862Glu
NM_001126107.2:c.2581A>G	NP_001119579.2:p.Lys861Glu
NM_001126108.2:c.2557A>G MANE Select	NP_001119580.2:p.Lys853Glu