Canonical Allele Identifier: CA495603128

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2841514
• ClinVar RCV Id: RCV003719034
• MyVariant Identifiers: chr16:g.56904102C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870190C>T , CM000678.2:g.56870190C>T	GRCh38
NC_000016.9:g.56904102C>T , CM000678.1:g.56904102C>T	GRCh37
NC_000016.8:g.55461603C>T	NCBI36
NG_009386.1:g.9984C>T
NG_009386.2:g.9984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.696C>T MANE Select	ENSP00000456149.2:p.Ala232=
ENST00000262502.5:c.693C>T	ENSP00000262502.5:p.Ala231=
ENST00000438926.6:c.696C>T	ENSP00000402152.2:p.Ala232=
ENST00000563236.5:c.696C>T	ENSP00000456149.1:p.Ala232=
ENST00000566786.5:c.693C>T	ENSP00000457552.1:p.Ala231=
NM_000339.2:c.696C>T	NP_000330.2:p.Ala232=
NM_001126107.1:c.693C>T	NP_001119579.1:p.Ala231=
NM_001126108.1:c.696C>T	NP_001119580.1:p.Ala232=
XM_005256119.1:c.693C>T	XP_005256176.1:p.Ala231=
XM_005256119.2:c.693C>T	XP_005256176.1:p.Ala231=
NM_000339.3:c.696C>T	NP_000330.3:p.Ala232=
NM_001126107.2:c.693C>T	NP_001119579.2:p.Ala231=
NM_001126108.2:c.696C>T MANE Select	NP_001119580.2:p.Ala232=