Canonical Allele Identifier: CA2224350867

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055282632
• gnomAD v4: 16-56884320-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884325_56884326dup , CM000678.2:g.56884325_56884326dup	GRCh38
NC_000016.9:g.56918237_56918238dup , CM000678.1:g.56918237_56918238dup	GRCh37
NC_000016.8:g.55475738_55475739dup	NCBI36
NG_009386.1:g.24119_24120dup
NG_009386.2:g.24119_24120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1825+121_1825+122dup MANE Select	ENSP00000456149.2:n.1825+121_1825+122dup
ENST00000262502.5:c.1822+121_1822+122dup	ENSP00000262502.5:n.1822+121_1822+122dup
ENST00000438926.6:c.1825+121_1825+122dup	ENSP00000402152.2:n.1825+121_1825+122dup
ENST00000563236.5:c.1825+121_1825+122dup	ENSP00000456149.1:n.1825+121_1825+122dup
ENST00000566786.5:c.1822+121_1822+122dup	ENSP00000457552.1:n.1822+121_1822+122dup
NM_000339.2:c.1825+121_1825+122dup	NP_000330.2:n.1825+121_1825+122dup
NM_001126107.1:c.1822+121_1822+122dup	NP_001119579.1:n.1822+121_1822+122dup
NM_001126108.1:c.1825+121_1825+122dup	NP_001119580.1:n.1825+121_1825+122dup
XM_005256119.1:c.1822+121_1822+122dup	XP_005256176.1:n.1822+121_1822+122dup
XM_005256119.2:c.1822+121_1822+122dup	XP_005256176.1:n.1822+121_1822+122dup
NM_000339.3:c.1825+121_1825+122dup	NP_000330.3:n.1825+121_1825+122dup
NM_001126107.2:c.1822+121_1822+122dup	NP_001119579.2:n.1822+121_1822+122dup
NM_001126108.2:c.1825+121_1825+122dup MANE Select	NP_001119580.2:n.1825+121_1825+122dup