Canonical Allele Identifier: CA495603119

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1554440
• ClinVar RCV Id: RCV002190168
• dbSNP Id: rs2144689704
• MyVariant Identifiers: chr16:g.56904093G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870181G>T , CM000678.2:g.56870181G>T	GRCh38
NC_000016.9:g.56904093G>T , CM000678.1:g.56904093G>T	GRCh37
NC_000016.8:g.55461594G>T	NCBI36
NG_009386.1:g.9975G>T
NG_009386.2:g.9975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.687G>T MANE Select	ENSP00000456149.2:p.Val229=
ENST00000262502.5:c.684G>T	ENSP00000262502.5:p.Val228=
ENST00000438926.6:c.687G>T	ENSP00000402152.2:p.Val229=
ENST00000563236.5:c.687G>T	ENSP00000456149.1:p.Val229=
ENST00000566786.5:c.684G>T	ENSP00000457552.1:p.Val228=
NM_000339.2:c.687G>T	NP_000330.2:p.Val229=
NM_001126107.1:c.684G>T	NP_001119579.1:p.Val228=
NM_001126108.1:c.687G>T	NP_001119580.1:p.Val229=
XM_005256119.1:c.684G>T	XP_005256176.1:p.Val228=
XM_005256119.2:c.684G>T	XP_005256176.1:p.Val228=
NM_000339.3:c.687G>T	NP_000330.3:p.Val229=
NM_001126107.2:c.684G>T	NP_001119579.2:p.Val228=
NM_001126108.2:c.687G>T MANE Select	NP_001119580.2:p.Val229=