Canonical Allele Identifier: CA721950747

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 863343
• ClinVar RCV Id: RCV001070285
• dbSNP Id: rs1267515400
• MyVariant Identifiers: chr16:g.56938357del (hg19) ; chr16:g.56904445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904445del , CM000678.2:g.56904445del	GRCh38
NC_000016.9:g.56938357del , CM000678.1:g.56938357del	GRCh37
NC_000016.8:g.55495858del	NCBI36
NG_009386.1:g.44239del
NG_009386.2:g.44239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2907del MANE Select	ENSP00000456149.2:p.Asp969GlufsTer11
ENST00000262502.5:c.2904del	ENSP00000262502.5:p.Asp968GlufsTer11
ENST00000438926.6:c.2934del	ENSP00000402152.2:p.Asp978GlufsTer11
ENST00000563236.5:c.2907del	ENSP00000456149.1:p.Asp969GlufsTer11
ENST00000566786.5:c.2931del	ENSP00000457552.1:p.Asp977GlufsTer11
ENST00000569002.1:n.338del
NM_000339.2:c.2934del	NP_000330.2:p.Asp978GlufsTer11
NM_001126107.1:c.2931del	NP_001119579.1:p.Asp977GlufsTer11
NM_001126108.1:c.2907del	NP_001119580.1:p.Asp969GlufsTer11
XM_005256119.1:c.2904del	XP_005256176.1:p.Asp968GlufsTer11
XM_005256119.2:c.2904del	XP_005256176.1:p.Asp968GlufsTer11
NM_000339.3:c.2934del	NP_000330.3:p.Asp978GlufsTer11
NM_001126107.2:c.2931del	NP_001119579.2:p.Asp977GlufsTer11
NM_001126108.2:c.2907del MANE Select	NP_001119580.2:p.Asp969GlufsTer11