Canonical Allele Identifier: CA915949278

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 739649
• ClinVar RCV Id: RCV000915636
• dbSNP Id: rs1596952680

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904387C>G , CM000678.2:g.56904387C>G	GRCh38
NC_000016.9:g.56938299C>G , CM000678.1:g.56938299C>G	GRCh37
NC_000016.8:g.55495800C>G	NCBI36
NG_009386.1:g.44181C>G
NG_009386.2:g.44181C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2857-8C>G MANE Select	ENSP00000456149.2:n.2857-8C>G
ENST00000262502.5:c.2854-8C>G	ENSP00000262502.5:n.2854-8C>G
ENST00000438926.6:c.2884-8C>G	ENSP00000402152.2:n.2884-8C>G
ENST00000563236.5:c.2857-8C>G	ENSP00000456149.1:n.2857-8C>G
ENST00000566786.5:c.2881-8C>G	ENSP00000457552.1:n.2881-8C>G
ENST00000569002.1:n.288-8C>G
NM_000339.2:c.2884-8C>G	NP_000330.2:n.2884-8C>G
NM_001126107.1:c.2881-8C>G	NP_001119579.1:n.2881-8C>G
NM_001126108.1:c.2857-8C>G	NP_001119580.1:n.2857-8C>G
XM_005256119.1:c.2854-8C>G	XP_005256176.1:n.2854-8C>G
XM_005256119.2:c.2854-8C>G	XP_005256176.1:n.2854-8C>G
NM_000339.3:c.2884-8C>G	NP_000330.3:n.2884-8C>G
NM_001126107.2:c.2881-8C>G	NP_001119579.2:n.2881-8C>G
NM_001126108.2:c.2857-8C>G MANE Select	NP_001119580.2:n.2857-8C>G