Canonical Allele Identifier: CA2843084629

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902292dup , CM000678.2:g.56902292dup	GRCh38
NC_000016.9:g.56936204dup , CM000678.1:g.56936204dup	GRCh37
NC_000016.8:g.55493705dup	NCBI36
NG_009386.1:g.42086dup
NG_009386.2:g.42086dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2721-81dup MANE Select	ENSP00000456149.2:n.2721-81dup
ENST00000262502.5:c.2718-81dup	ENSP00000262502.5:n.2718-81dup
ENST00000438926.6:c.2748-81dup	ENSP00000402152.2:n.2748-81dup
ENST00000563236.5:c.2721-81dup	ENSP00000456149.1:n.2721-81dup
ENST00000566786.5:c.2745-81dup	ENSP00000457552.1:n.2745-81dup
ENST00000569002.1:n.71dup
NM_000339.2:c.2748-81dup	NP_000330.2:n.2748-81dup
NM_001126107.1:c.2745-81dup	NP_001119579.1:n.2745-81dup
NM_001126108.1:c.2721-81dup	NP_001119580.1:n.2721-81dup
XM_005256119.1:c.2718-81dup	XP_005256176.1:n.2718-81dup
XM_005256119.2:c.2718-81dup	XP_005256176.1:n.2718-81dup
NM_000339.3:c.2748-81dup	NP_000330.3:n.2748-81dup
NM_001126107.2:c.2745-81dup	NP_001119579.2:n.2745-81dup
NM_001126108.2:c.2721-81dup MANE Select	NP_001119580.2:n.2721-81dup