Canonical Allele Identifier: CA396002241

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1717373
• ClinVar RCV Id: RCV002297565
• MyVariant Identifiers: chr16:g.56938316C>G (hg19) ; chr16:g.56904404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904404C>G , CM000678.2:g.56904404C>G	GRCh38
NC_000016.9:g.56938316C>G , CM000678.1:g.56938316C>G	GRCh37
NC_000016.8:g.55495817C>G	NCBI36
NG_009386.1:g.44198C>G
NG_009386.2:g.44198C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2866C>G MANE Select	ENSP00000456149.2:p.Gln956Glu
ENST00000262502.5:c.2863C>G	ENSP00000262502.5:p.Gln955Glu
ENST00000438926.6:c.2893C>G	ENSP00000402152.2:p.Gln965Glu
ENST00000563236.5:c.2866C>G	ENSP00000456149.1:p.Gln956Glu
ENST00000566786.5:c.2890C>G	ENSP00000457552.1:p.Gln964Glu
ENST00000569002.1:n.297C>G
NM_000339.2:c.2893C>G	NP_000330.2:p.Gln965Glu
NM_001126107.1:c.2890C>G	NP_001119579.1:p.Gln964Glu
NM_001126108.1:c.2866C>G	NP_001119580.1:p.Gln956Glu
XM_005256119.1:c.2863C>G	XP_005256176.1:p.Gln955Glu
XM_005256119.2:c.2863C>G	XP_005256176.1:p.Gln955Glu
NM_000339.3:c.2893C>G	NP_000330.3:p.Gln965Glu
NM_001126107.2:c.2890C>G	NP_001119579.2:p.Gln964Glu
NM_001126108.2:c.2866C>G MANE Select	NP_001119580.2:p.Gln956Glu