Canonical Allele Identifier: CA8070071

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1077594
• ClinVar RCV Id: RCV001392216
• dbSNP Id: rs753841103
• ExAC: 16:56936404 C / T
• gnomAD v2: 16-56936404-C-T
• gnomAD v3: 16-56902492-C-T
• gnomAD v4: 16-56902492-C-T
• MyVariant Identifiers: chr16:g.56936404C>T (hg19) ; chr16:g.56902492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902492C>T , CM000678.2:g.56902492C>T	GRCh38
NC_000016.9:g.56936404C>T , CM000678.1:g.56936404C>T	GRCh37
NC_000016.8:g.55493905C>T	NCBI36
NG_009386.1:g.42286C>T
NG_009386.2:g.42286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2840C>T MANE Select	ENSP00000456149.2:p.Thr947Met
ENST00000262502.5:c.2837C>T	ENSP00000262502.5:p.Thr946Met
ENST00000438926.6:c.2867C>T	ENSP00000402152.2:p.Thr956Met
ENST00000563236.5:c.2840C>T	ENSP00000456149.1:p.Thr947Met
ENST00000566786.5:c.2864C>T	ENSP00000457552.1:p.Thr955Met
ENST00000569002.1:n.271C>T
NM_000339.2:c.2867C>T	NP_000330.2:p.Thr956Met
NM_001126107.1:c.2864C>T	NP_001119579.1:p.Thr955Met
NM_001126108.1:c.2840C>T	NP_001119580.1:p.Thr947Met
XM_005256119.1:c.2837C>T	XP_005256176.1:p.Thr946Met
XM_005256119.2:c.2837C>T	XP_005256176.1:p.Thr946Met
NM_000339.3:c.2867C>T	NP_000330.3:p.Thr956Met
NM_001126107.2:c.2864C>T	NP_001119579.2:p.Thr955Met
NM_001126108.2:c.2840C>T MANE Select	NP_001119580.2:p.Thr947Met