Canonical Allele Identifier: CA2633380096

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56879363-G-GAGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879366_56879370dup , CM000678.2:g.56879366_56879370dup	GRCh38
NC_000016.9:g.56913278_56913282dup , CM000678.1:g.56913278_56913282dup	GRCh37
NC_000016.8:g.55470779_55470783dup	NCBI36
NG_009386.1:g.19160_19164dup
NG_009386.2:g.19160_19164dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1335+139_1335+143dup MANE Select	ENSP00000456149.2:n.1335+139_1335+143dup
ENST00000262502.5:c.1332+139_1332+143dup	ENSP00000262502.5:n.1332+139_1332+143dup
ENST00000438926.6:c.1335+139_1335+143dup	ENSP00000402152.2:n.1335+139_1335+143dup
ENST00000563236.5:c.1335+139_1335+143dup	ENSP00000456149.1:n.1335+139_1335+143dup
ENST00000566786.5:c.1332+139_1332+143dup	ENSP00000457552.1:n.1332+139_1332+143dup
NM_000339.2:c.1335+139_1335+143dup	NP_000330.2:n.1335+139_1335+143dup
NM_001126107.1:c.1332+139_1332+143dup	NP_001119579.1:n.1332+139_1332+143dup
NM_001126108.1:c.1335+139_1335+143dup	NP_001119580.1:n.1335+139_1335+143dup
XM_005256119.1:c.1332+139_1332+143dup	XP_005256176.1:n.1332+139_1332+143dup
XM_005256119.2:c.1332+139_1332+143dup	XP_005256176.1:n.1332+139_1332+143dup
NM_000339.3:c.1335+139_1335+143dup	NP_000330.3:n.1335+139_1335+143dup
NM_001126107.2:c.1332+139_1332+143dup	NP_001119579.2:n.1332+139_1332+143dup
NM_001126108.2:c.1335+139_1335+143dup MANE Select	NP_001119580.2:n.1335+139_1335+143dup