Canonical Allele Identifier: CA2732476887

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2144690700

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870640_56870641insGGTGC , CM000678.2:g.56870640_56870641insGGTGC	GRCh38
NC_000016.9:g.56904552_56904553insGGTGC , CM000678.1:g.56904552_56904553insGGTGC	GRCh37
NC_000016.8:g.55462053_55462054insGGTGC	NCBI36
NG_009386.1:g.10434_10435insGGTGC
NG_009386.2:g.10434_10435insGGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.756_757insGGTGC MANE Select	ENSP00000456149.2:p.Ile253GlyfsTer?
ENST00000262502.5:c.753_754insGGTGC	ENSP00000262502.5:p.Ile252GlyfsTer?
ENST00000438926.6:c.756_757insGGTGC	ENSP00000402152.2:p.Ile253GlyfsTer?
ENST00000563236.5:c.756_757insGGTGC	ENSP00000456149.1:p.Ile253GlyfsTer?
ENST00000566786.5:c.753_754insGGTGC	ENSP00000457552.1:p.Ile252GlyfsTer?
NM_000339.2:c.756_757insGGTGC	NP_000330.2:p.Ile253GlyfsTer?
NM_001126107.1:c.753_754insGGTGC	NP_001119579.1:p.Ile252GlyfsTer?
NM_001126108.1:c.756_757insGGTGC	NP_001119580.1:p.Ile253GlyfsTer?
XM_005256119.1:c.753_754insGGTGC	XP_005256176.1:p.Ile252GlyfsTer?
XM_005256119.2:c.753_754insGGTGC	XP_005256176.1:p.Ile252GlyfsTer?
NM_000339.3:c.756_757insGGTGC	NP_000330.3:p.Ile253GlyfsTer?
NM_001126107.2:c.753_754insGGTGC	NP_001119579.2:p.Ile252GlyfsTer?
NM_001126108.2:c.756_757insGGTGC MANE Select	NP_001119580.2:p.Ile253GlyfsTer?