Canonical Allele Identifier: CA2633379896

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56879310-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879316dup , CM000678.2:g.56879316dup	GRCh38
NC_000016.9:g.56913228dup , CM000678.1:g.56913228dup	GRCh37
NC_000016.8:g.55470729dup	NCBI36
NG_009386.1:g.19110dup
NG_009386.2:g.19110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1335+89dup MANE Select	ENSP00000456149.2:n.1335+89dup
ENST00000262502.5:c.1332+89dup	ENSP00000262502.5:n.1332+89dup
ENST00000438926.6:c.1335+89dup	ENSP00000402152.2:n.1335+89dup
ENST00000563236.5:c.1335+89dup	ENSP00000456149.1:n.1335+89dup
ENST00000566786.5:c.1332+89dup	ENSP00000457552.1:n.1332+89dup
NM_000339.2:c.1335+89dup	NP_000330.2:n.1335+89dup
NM_001126107.1:c.1332+89dup	NP_001119579.1:n.1332+89dup
NM_001126108.1:c.1335+89dup	NP_001119580.1:n.1335+89dup
XM_005256119.1:c.1332+89dup	XP_005256176.1:n.1332+89dup
XM_005256119.2:c.1332+89dup	XP_005256176.1:n.1332+89dup
NM_000339.3:c.1335+89dup	NP_000330.3:n.1335+89dup
NM_001126107.2:c.1332+89dup	NP_001119579.2:n.1332+89dup
NM_001126108.2:c.1335+89dup MANE Select	NP_001119580.2:n.1335+89dup