Canonical Allele Identifier: CA395986357

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055204651
• gnomAD v3: 16-56879213-A-C
• gnomAD v4: 16-56879213-A-C
• MyVariant Identifiers: chr16:g.56913125A>C (hg19) ; chr16:g.56879213A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879213A>C , CM000678.2:g.56879213A>C	GRCh38
NC_000016.9:g.56913125A>C , CM000678.1:g.56913125A>C	GRCh37
NC_000016.8:g.55470626A>C	NCBI36
NG_009386.1:g.19007A>C
NG_009386.2:g.19007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1321A>C MANE Select	ENSP00000456149.2:p.Ile441Leu
ENST00000262502.5:c.1318A>C	ENSP00000262502.5:p.Ile440Leu
ENST00000438926.6:c.1321A>C	ENSP00000402152.2:p.Ile441Leu
ENST00000563236.5:c.1321A>C	ENSP00000456149.1:p.Ile441Leu
ENST00000566786.5:c.1318A>C	ENSP00000457552.1:p.Ile440Leu
NM_000339.2:c.1321A>C	NP_000330.2:p.Ile441Leu
NM_001126107.1:c.1318A>C	NP_001119579.1:p.Ile440Leu
NM_001126108.1:c.1321A>C	NP_001119580.1:p.Ile441Leu
XM_005256119.1:c.1318A>C	XP_005256176.1:p.Ile440Leu
XM_005256119.2:c.1318A>C	XP_005256176.1:p.Ile440Leu
NM_000339.3:c.1321A>C	NP_000330.3:p.Ile441Leu
NM_001126107.2:c.1318A>C	NP_001119579.2:p.Ile440Leu
NM_001126108.2:c.1321A>C MANE Select	NP_001119580.2:p.Ile441Leu