Canonical Allele Identifier: CA395994719

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 887611
• ClinVar RCV Id: RCV001120453
• dbSNP Id: rs2055341573
• MyVariant Identifiers: chr16:g.56921883T>G (hg19) ; chr16:g.56887971T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887971T>G , CM000678.2:g.56887971T>G	GRCh38
NC_000016.9:g.56921883T>G , CM000678.1:g.56921883T>G	GRCh37
NC_000016.8:g.55479384T>G	NCBI36
NG_009386.1:g.27765T>G
NG_009386.2:g.27765T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2225T>G MANE Select	ENSP00000456149.2:p.Phe742Cys
ENST00000262502.5:c.2222T>G	ENSP00000262502.5:p.Phe741Cys
ENST00000438926.6:c.2225T>G	ENSP00000402152.2:p.Phe742Cys
ENST00000563236.5:c.2225T>G	ENSP00000456149.1:p.Phe742Cys
ENST00000566786.5:c.2222T>G	ENSP00000457552.1:p.Phe741Cys
NM_000339.2:c.2225T>G	NP_000330.2:p.Phe742Cys
NM_001126107.1:c.2222T>G	NP_001119579.1:p.Phe741Cys
NM_001126108.1:c.2225T>G	NP_001119580.1:p.Phe742Cys
XM_005256119.1:c.2222T>G	XP_005256176.1:p.Phe741Cys
XM_005256119.2:c.2222T>G	XP_005256176.1:p.Phe741Cys
NM_000339.3:c.2225T>G	NP_000330.3:p.Phe742Cys
NM_001126107.2:c.2222T>G	NP_001119579.2:p.Phe741Cys
NM_001126108.2:c.2225T>G MANE Select	NP_001119580.2:p.Phe742Cys