Canonical Allele Identifier: CA2740093387

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2961051
• ClinVar RCV Id: RCV003819762

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894607_56894608delinsTA , CM000678.2:g.56894607_56894608delinsTA	GRCh38
NC_000016.9:g.56928519_56928520delinsTA , CM000678.1:g.56928519_56928520delinsTA	GRCh37
NC_000016.8:g.55486020_55486021delinsTA	NCBI36
NG_009386.1:g.34401_34402delinsTA
NG_009386.2:g.34401_34402delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2598_2599delinsTA MANE Select	ENSP00000456149.2:p.Gly867Ser
ENST00000262502.5:c.2595_2596delinsTA	ENSP00000262502.5:p.Gly866Ser
ENST00000438926.6:c.2625_2626delinsTA	ENSP00000402152.2:p.Gly876Ser
ENST00000563236.5:c.2598_2599delinsTA	ENSP00000456149.1:p.Gly867Ser
ENST00000566786.5:c.2622_2623delinsTA	ENSP00000457552.1:p.Gly875Ser
NM_000339.2:c.2625_2626delinsTA	NP_000330.2:p.Gly876Ser
NM_001126107.1:c.2622_2623delinsTA	NP_001119579.1:p.Gly875Ser
NM_001126108.1:c.2598_2599delinsTA	NP_001119580.1:p.Gly867Ser
XM_005256119.1:c.2595_2596delinsTA	XP_005256176.1:p.Gly866Ser
XM_005256119.2:c.2595_2596delinsTA	XP_005256176.1:p.Gly866Ser
NM_000339.3:c.2625_2626delinsTA	NP_000330.3:p.Gly876Ser
NM_001126107.2:c.2622_2623delinsTA	NP_001119579.2:p.Gly875Ser
NM_001126108.2:c.2598_2599delinsTA MANE Select	NP_001119580.2:p.Gly867Ser