Canonical Allele Identifier: CA2224368045

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56913237_56913241dup , CM000678.2:g.56913237_56913241dup	GRCh38
NC_000016.9:g.56947149_56947153dup , CM000678.1:g.56947149_56947153dup	GRCh37
NC_000016.8:g.55504650_55504654dup	NCBI36
NG_009386.1:g.53031_53035dup
NG_009386.2:g.53031_53035dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.2925-27_2925-23dup MANE Select	NP_001119580.2:n.2925-27_2925-23dup
ENST00000563236.6:c.2925-27_2925-23dup MANE Select	ENSP00000456149.2:n.2925-27_2925-23dup
NM_000339.2:c.2952-27_2952-23dup	NP_000330.2:n.2952-27_2952-23dup
NM_000339.3:c.2952-27_2952-23dup	NP_000330.3:n.2952-27_2952-23dup
NM_001126107.1:c.2949-27_2949-23dup	NP_001119579.1:n.2949-27_2949-23dup
NM_001126107.2:c.2949-27_2949-23dup	NP_001119579.2:n.2949-27_2949-23dup
NM_001126108.1:c.2925-27_2925-23dup	NP_001119580.1:n.2925-27_2925-23dup
ENST00000262502.5:c.2922-27_2922-23dup	ENSP00000262502.5:n.2922-27_2922-23dup
ENST00000438926.6:c.2952-27_2952-23dup	ENSP00000402152.2:n.2952-27_2952-23dup
ENST00000563236.5:c.2925-27_2925-23dup	ENSP00000456149.1:n.2925-27_2925-23dup
ENST00000563352.1:n.73-27_73-23dup
ENST00000566786.5:c.2949-27_2949-23dup	ENSP00000457552.1:n.2949-27_2949-23dup
XM_005256119.1:c.2922-27_2922-23dup	XP_005256176.1:n.2922-27_2922-23dup
XM_005256119.2:c.2922-27_2922-23dup	XP_005256176.1:n.2922-27_2922-23dup