Canonical Allele Identifier: CA2224349257

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1684188
• ClinVar RCV Id: RCV002245187
• dbSNP Id: rs2055071198
• gnomAD v4: 16-56870085-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870085T>A , CM000678.2:g.56870085T>A	GRCh38
NC_000016.9:g.56903997T>A , CM000678.1:g.56903997T>A	GRCh37
NC_000016.8:g.55461498T>A	NCBI36
NG_009386.1:g.9879T>A
NG_009386.2:g.9879T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.602-11T>A MANE Select	ENSP00000456149.2:n.602-11T>A
ENST00000262502.5:c.599-11T>A	ENSP00000262502.5:n.599-11T>A
ENST00000438926.6:c.602-11T>A	ENSP00000402152.2:n.602-11T>A
ENST00000563236.5:c.602-11T>A	ENSP00000456149.1:n.602-11T>A
ENST00000566786.5:c.599-11T>A	ENSP00000457552.1:n.599-11T>A
NM_000339.2:c.602-11T>A	NP_000330.2:n.602-11T>A
NM_001126107.1:c.599-11T>A	NP_001119579.1:n.599-11T>A
NM_001126108.1:c.602-11T>A	NP_001119580.1:n.602-11T>A
XM_005256119.1:c.599-11T>A	XP_005256176.1:n.599-11T>A
XM_005256119.2:c.599-11T>A	XP_005256176.1:n.599-11T>A
NM_000339.3:c.602-11T>A	NP_000330.3:n.602-11T>A
NM_001126107.2:c.599-11T>A	NP_001119579.2:n.599-11T>A
NM_001126108.2:c.602-11T>A MANE Select	NP_001119580.2:n.602-11T>A