Canonical Allele Identifier: CA14266352

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1287368
• ClinVar RCV Id: RCV001710495
• dbSNP Id: rs13306678
• gnomAD v2: 16-56928277-C-T
• gnomAD v3: 16-56894365-C-T
• gnomAD v4: 16-56894365-C-T
• MyVariant Identifiers: chr16:g.56928277C>T (hg19) ; chr16:g.56894365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894365C>T , CM000678.2:g.56894365C>T	GRCh38
NC_000016.9:g.56928277C>T , CM000678.1:g.56928277C>T	GRCh37
NC_000016.8:g.55485778C>T	NCBI36
NG_009386.1:g.34159C>T
NG_009386.2:g.34159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2522-166C>T MANE Select	ENSP00000456149.2:n.2522-166C>T
ENST00000262502.5:c.2519-166C>T	ENSP00000262502.5:n.2519-166C>T
ENST00000438926.6:c.2549-166C>T	ENSP00000402152.2:n.2549-166C>T
ENST00000563236.5:c.2522-166C>T	ENSP00000456149.1:n.2522-166C>T
ENST00000566786.5:c.2546-166C>T	ENSP00000457552.1:n.2546-166C>T
NM_000339.2:c.2549-166C>T	NP_000330.2:n.2549-166C>T
NM_001126107.1:c.2546-166C>T	NP_001119579.1:n.2546-166C>T
NM_001126108.1:c.2522-166C>T	NP_001119580.1:n.2522-166C>T
XM_005256119.1:c.2519-166C>T	XP_005256176.1:n.2519-166C>T
XM_005256119.2:c.2519-166C>T	XP_005256176.1:n.2519-166C>T
NM_000339.3:c.2549-166C>T	NP_000330.3:n.2549-166C>T
NM_001126107.2:c.2546-166C>T	NP_001119579.2:n.2546-166C>T
NM_001126108.2:c.2522-166C>T MANE Select	NP_001119580.2:n.2522-166C>T