Canonical Allele Identifier: CA2580091681

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2055800
• ClinVar RCV Id: RCV002947338

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879596dup , CM000678.2:g.56879596dup	GRCh38
NC_000016.9:g.56913508dup , CM000678.1:g.56913508dup	GRCh37
NC_000016.8:g.55471009dup	NCBI36
NG_009386.1:g.19390dup
NG_009386.2:g.19390dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1390dup MANE Select	ENSP00000456149.2:p.Ala464GlyfsTer?
ENST00000262502.5:c.1387dup	ENSP00000262502.5:p.Ala463GlyfsTer?
ENST00000438926.6:c.1390dup	ENSP00000402152.2:p.Ala464GlyfsTer?
ENST00000563236.5:c.1390dup	ENSP00000456149.1:p.Ala464GlyfsTer?
ENST00000566786.5:c.1387dup	ENSP00000457552.1:p.Ala463GlyfsTer?
NM_000339.2:c.1390dup	NP_000330.2:p.Ala464GlyfsTer?
NM_001126107.1:c.1387dup	NP_001119579.1:p.Ala463GlyfsTer?
NM_001126108.1:c.1390dup	NP_001119580.1:p.Ala464GlyfsTer?
XM_005256119.1:c.1387dup	XP_005256176.1:p.Ala463GlyfsTer?
XM_005256119.2:c.1387dup	XP_005256176.1:p.Ala463GlyfsTer?
NM_000339.3:c.1390dup	NP_000330.3:p.Ala464GlyfsTer?
NM_001126107.2:c.1387dup	NP_001119579.2:p.Ala463GlyfsTer?
NM_001126108.2:c.1390dup MANE Select	NP_001119580.2:p.Ala464GlyfsTer?