Canonical Allele Identifier: CA2573152520

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1660877
• ClinVar RCV Id: RCV002176284
• dbSNP Id: rs2144772184

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904378_56904379delinsAA , CM000678.2:g.56904378_56904379delinsAA	GRCh38
NC_000016.9:g.56938290_56938291delinsAA , CM000678.1:g.56938290_56938291delinsAA	GRCh37
NC_000016.8:g.55495791_55495792delinsAA	NCBI36
NG_009386.1:g.44172_44173delinsAA
NG_009386.2:g.44172_44173delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2857-17_2857-16delinsAA MANE Select	ENSP00000456149.2:n.2857-17_2857-16delinsAA
ENST00000262502.5:c.2854-17_2854-16delinsAA	ENSP00000262502.5:n.2854-17_2854-16delinsAA
ENST00000438926.6:c.2884-17_2884-16delinsAA	ENSP00000402152.2:n.2884-17_2884-16delinsAA
ENST00000563236.5:c.2857-17_2857-16delinsAA	ENSP00000456149.1:n.2857-17_2857-16delinsAA
ENST00000566786.5:c.2881-17_2881-16delinsAA	ENSP00000457552.1:n.2881-17_2881-16delinsAA
ENST00000569002.1:n.288-17_288-16delinsAA
NM_000339.2:c.2884-17_2884-16delinsAA	NP_000330.2:n.2884-17_2884-16delinsAA
NM_001126107.1:c.2881-17_2881-16delinsAA	NP_001119579.1:n.2881-17_2881-16delinsAA
NM_001126108.1:c.2857-17_2857-16delinsAA	NP_001119580.1:n.2857-17_2857-16delinsAA
XM_005256119.1:c.2854-17_2854-16delinsAA	XP_005256176.1:n.2854-17_2854-16delinsAA
XM_005256119.2:c.2854-17_2854-16delinsAA	XP_005256176.1:n.2854-17_2854-16delinsAA
NM_000339.3:c.2884-17_2884-16delinsAA	NP_000330.3:n.2884-17_2884-16delinsAA
NM_001126107.2:c.2881-17_2881-16delinsAA	NP_001119579.2:n.2881-17_2881-16delinsAA
NM_001126108.2:c.2857-17_2857-16delinsAA MANE Select	NP_001119580.2:n.2857-17_2857-16delinsAA