Canonical Allele Identifier: CA2224361245

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055437214

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894602del , CM000678.2:g.56894602del	GRCh38
NC_000016.9:g.56928514del , CM000678.1:g.56928514del	GRCh37
NC_000016.8:g.55486015del	NCBI36
NG_009386.1:g.34396del
NG_009386.2:g.34396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2593del MANE Select	ENSP00000456149.2:p.Val865Ter
ENST00000262502.5:c.2590del	ENSP00000262502.5:p.Val864Ter
ENST00000438926.6:c.2620del	ENSP00000402152.2:p.Val874Ter
ENST00000563236.5:c.2593del	ENSP00000456149.1:p.Val865Ter
ENST00000566786.5:c.2617del	ENSP00000457552.1:p.Val873Ter
NM_000339.2:c.2620del	NP_000330.2:p.Val874Ter
NM_001126107.1:c.2617del	NP_001119579.1:p.Val873Ter
NM_001126108.1:c.2593del	NP_001119580.1:p.Val865Ter
XM_005256119.1:c.2590del	XP_005256176.1:p.Val864Ter
XM_005256119.2:c.2590del	XP_005256176.1:p.Val864Ter
NM_000339.3:c.2620del	NP_000330.3:p.Val874Ter
NM_001126107.2:c.2617del	NP_001119579.2:p.Val873Ter
NM_001126108.2:c.2593del MANE Select	NP_001119580.2:p.Val865Ter