Canonical Allele Identifier: CA721937193

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1338849166
• gnomAD v3: 16-56886375-TG-T
• gnomAD v4: 16-56886375-TG-T
• MyVariant Identifiers: chr16:g.56920288del (hg19) ; chr16:g.56886376del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886377del , CM000678.2:g.56886377del	GRCh38
NC_000016.9:g.56920289del , CM000678.1:g.56920289del	GRCh37
NC_000016.8:g.55477790del	NCBI36
NG_009386.1:g.26171del
NG_009386.2:g.26171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1939del MANE Select	ENSP00000456149.2:p.Val647CysfsTer25
ENST00000262502.5:c.1936del	ENSP00000262502.5:p.Val646CysfsTer25
ENST00000438926.6:c.1939del	ENSP00000402152.2:p.Val647CysfsTer25
ENST00000563236.5:c.1939del	ENSP00000456149.1:p.Val647CysfsTer25
ENST00000566786.5:c.1936del	ENSP00000457552.1:p.Val646CysfsTer25
NM_000339.2:c.1939del	NP_000330.2:p.Val647CysfsTer25
NM_001126107.1:c.1936del	NP_001119579.1:p.Val646CysfsTer25
NM_001126108.1:c.1939del	NP_001119580.1:p.Val647CysfsTer25
XM_005256119.1:c.1936del	XP_005256176.1:p.Val646CysfsTer25
XM_005256119.2:c.1936del	XP_005256176.1:p.Val646CysfsTer25
NM_000339.3:c.1939del	NP_000330.3:p.Val647CysfsTer25
NM_001126107.2:c.1936del	NP_001119579.2:p.Val646CysfsTer25
NM_001126108.2:c.1939del MANE Select	NP_001119580.2:p.Val647CysfsTer25