Canonical Allele Identifier: CA395994789

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1071753
• ClinVar RCV Id: RCV001384291
• dbSNP Id: rs2055341736
• MyVariant Identifiers: chr16:g.56921897C>T (hg19) ; chr16:g.56887985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887985C>T , CM000678.2:g.56887985C>T	GRCh38
NC_000016.9:g.56921897C>T , CM000678.1:g.56921897C>T	GRCh37
NC_000016.8:g.55479398C>T	NCBI36
NG_009386.1:g.27779C>T
NG_009386.2:g.27779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2239C>T MANE Select	ENSP00000456149.2:p.Gln747Ter
ENST00000262502.5:c.2236C>T	ENSP00000262502.5:p.Gln746Ter
ENST00000438926.6:c.2239C>T	ENSP00000402152.2:p.Gln747Ter
ENST00000563236.5:c.2239C>T	ENSP00000456149.1:p.Gln747Ter
ENST00000566786.5:c.2236C>T	ENSP00000457552.1:p.Gln746Ter
NM_000339.2:c.2239C>T	NP_000330.2:p.Gln747Ter
NM_001126107.1:c.2236C>T	NP_001119579.1:p.Gln746Ter
NM_001126108.1:c.2239C>T	NP_001119580.1:p.Gln747Ter
XM_005256119.1:c.2236C>T	XP_005256176.1:p.Gln746Ter
XM_005256119.2:c.2236C>T	XP_005256176.1:p.Gln746Ter
NM_000339.3:c.2239C>T	NP_000330.3:p.Gln747Ter
NM_001126107.2:c.2236C>T	NP_001119579.2:p.Gln746Ter
NM_001126108.2:c.2239C>T MANE Select	NP_001119580.2:p.Gln747Ter