Canonical Allele Identifier: CA622333953

Gene: SLC12A3

Linked Data

• gnomAD v2: 16-56904091-GT-G
• gnomAD v4: 16-56870179-GT-G
• MyVariant Identifiers: chr16:g.56904092del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870180del , CM000678.2:g.56870180del	GRCh38
NC_000016.9:g.56904092del , CM000678.1:g.56904092del	GRCh37
NC_000016.8:g.55461593del	NCBI36
NG_009386.1:g.9974del
NG_009386.2:g.9974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.686del MANE Select	ENSP00000456149.2:p.Val229GlyfsTer?
ENST00000262502.5:c.683del	ENSP00000262502.5:p.Val228GlyfsTer?
ENST00000438926.6:c.686del	ENSP00000402152.2:p.Val229GlyfsTer?
ENST00000563236.5:c.686del	ENSP00000456149.1:p.Val229GlyfsTer?
ENST00000566786.5:c.683del	ENSP00000457552.1:p.Val228GlyfsTer?
NM_000339.2:c.686del	NP_000330.2:p.Val229GlyfsTer?
NM_001126107.1:c.683del	NP_001119579.1:p.Val228GlyfsTer?
NM_001126108.1:c.686del	NP_001119580.1:p.Val229GlyfsTer?
XM_005256119.1:c.683del	XP_005256176.1:p.Val228GlyfsTer?
XM_005256119.2:c.683del	XP_005256176.1:p.Val228GlyfsTer?
NM_000339.3:c.686del	NP_000330.3:p.Val229GlyfsTer?
NM_001126107.2:c.683del	NP_001119579.2:p.Val228GlyfsTer?
NM_001126108.2:c.686del MANE Select	NP_001119580.2:p.Val229GlyfsTer?