Canonical Allele Identifier: CA395997511

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56928502A>C (hg19) ; chr16:g.56894590A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894590A>C , CM000678.2:g.56894590A>C	GRCh38
NC_000016.9:g.56928502A>C , CM000678.1:g.56928502A>C	GRCh37
NC_000016.8:g.55486003A>C	NCBI36
NG_009386.1:g.34384A>C
NG_009386.2:g.34384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2581A>C MANE Select	ENSP00000456149.2:p.Ile861Leu
ENST00000262502.5:c.2578A>C	ENSP00000262502.5:p.Ile860Leu
ENST00000438926.6:c.2608A>C	ENSP00000402152.2:p.Ile870Leu
ENST00000563236.5:c.2581A>C	ENSP00000456149.1:p.Ile861Leu
ENST00000566786.5:c.2605A>C	ENSP00000457552.1:p.Ile869Leu
NM_000339.2:c.2608A>C	NP_000330.2:p.Ile870Leu
NM_001126107.1:c.2605A>C	NP_001119579.1:p.Ile869Leu
NM_001126108.1:c.2581A>C	NP_001119580.1:p.Ile861Leu
XM_005256119.1:c.2578A>C	XP_005256176.1:p.Ile860Leu
XM_005256119.2:c.2578A>C	XP_005256176.1:p.Ile860Leu
NM_000339.3:c.2608A>C	NP_000330.3:p.Ile870Leu
NM_001126107.2:c.2605A>C	NP_001119579.2:p.Ile869Leu
NM_001126108.2:c.2581A>C MANE Select	NP_001119580.2:p.Ile861Leu