Canonical Allele Identifier: CA977638335

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055082500
• gnomAD v3: 16-56870706-C-CT
• gnomAD v4: 16-56870706-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870707dup , CM000678.2:g.56870707dup	GRCh38
NC_000016.9:g.56904619dup , CM000678.1:g.56904619dup	GRCh37
NC_000016.8:g.55462120dup	NCBI36
NG_009386.1:g.10501dup
NG_009386.2:g.10501dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.823dup MANE Select	ENSP00000456149.2:p.Ser275PhefsTer?
ENST00000262502.5:c.820dup	ENSP00000262502.5:p.Ser274PhefsTer?
ENST00000438926.6:c.823dup	ENSP00000402152.2:p.Ser275PhefsTer?
ENST00000563236.5:c.823dup	ENSP00000456149.1:p.Ser275PhefsTer?
ENST00000566786.5:c.820dup	ENSP00000457552.1:p.Ser274PhefsTer?
NM_000339.2:c.823dup	NP_000330.2:p.Ser275PhefsTer?
NM_001126107.1:c.820dup	NP_001119579.1:p.Ser274PhefsTer?
NM_001126108.1:c.823dup	NP_001119580.1:p.Ser275PhefsTer?
XM_005256119.1:c.820dup	XP_005256176.1:p.Ser274PhefsTer?
XM_005256119.2:c.820dup	XP_005256176.1:p.Ser274PhefsTer?
NM_000339.3:c.823dup	NP_000330.3:p.Ser275PhefsTer?
NM_001126107.2:c.820dup	NP_001119579.2:p.Ser274PhefsTer?
NM_001126108.2:c.823dup MANE Select	NP_001119580.2:p.Ser275PhefsTer?