Canonical Allele Identifier: CA2224349186

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055069256

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869947_56869948dup , CM000678.2:g.56869947_56869948dup	GRCh38
NC_000016.9:g.56903859_56903860dup , CM000678.1:g.56903859_56903860dup	GRCh37
NC_000016.8:g.55461360_55461361dup	NCBI36
NG_009386.1:g.9741_9742dup
NG_009386.2:g.9741_9742dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.601+123_601+124dup MANE Select	ENSP00000456149.2:n.601+123_601+124dup
ENST00000262502.5:c.598+123_598+124dup	ENSP00000262502.5:n.598+123_598+124dup
ENST00000438926.6:c.601+123_601+124dup	ENSP00000402152.2:n.601+123_601+124dup
ENST00000563236.5:c.601+123_601+124dup	ENSP00000456149.1:n.601+123_601+124dup
ENST00000566786.5:c.598+123_598+124dup	ENSP00000457552.1:n.598+123_598+124dup
NM_000339.2:c.601+123_601+124dup	NP_000330.2:n.601+123_601+124dup
NM_001126107.1:c.598+123_598+124dup	NP_001119579.1:n.598+123_598+124dup
NM_001126108.1:c.601+123_601+124dup	NP_001119580.1:n.601+123_601+124dup
XM_005256119.1:c.598+123_598+124dup	XP_005256176.1:n.598+123_598+124dup
XM_005256119.2:c.598+123_598+124dup	XP_005256176.1:n.598+123_598+124dup
NM_000339.3:c.601+123_601+124dup	NP_000330.3:n.601+123_601+124dup
NM_001126107.2:c.598+123_598+124dup	NP_001119579.2:n.598+123_598+124dup
NM_001126108.2:c.601+123_601+124dup MANE Select	NP_001119580.2:n.601+123_601+124dup