Canonical Allele Identifier: CA2739266783

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2825353
• ClinVar RCV Id: RCV003681007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894624_56894642dup , CM000678.2:g.56894624_56894642dup	GRCh38
NC_000016.9:g.56928536_56928554dup , CM000678.1:g.56928536_56928554dup	GRCh37
NC_000016.8:g.55486037_55486055dup	NCBI36
NG_009386.1:g.34418_34436dup
NG_009386.2:g.34418_34436dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2615_2633dup MANE Select	ENSP00000456149.2:p.Ile879GlyfsTer20
ENST00000262502.5:c.2612_2630dup	ENSP00000262502.5:p.Ile878GlyfsTer20
ENST00000438926.6:c.2642_2660dup	ENSP00000402152.2:p.Ile888GlyfsTer20
ENST00000563236.5:c.2615_2633dup	ENSP00000456149.1:p.Ile879GlyfsTer20
ENST00000566786.5:c.2639_2657dup	ENSP00000457552.1:p.Ile887GlyfsTer20
NM_000339.2:c.2642_2660dup	NP_000330.2:p.Ile888GlyfsTer20
NM_001126107.1:c.2639_2657dup	NP_001119579.1:p.Ile887GlyfsTer20
NM_001126108.1:c.2615_2633dup	NP_001119580.1:p.Ile879GlyfsTer20
XM_005256119.1:c.2612_2630dup	XP_005256176.1:p.Ile878GlyfsTer20
XM_005256119.2:c.2612_2630dup	XP_005256176.1:p.Ile878GlyfsTer20
NM_000339.3:c.2642_2660dup	NP_000330.3:p.Ile888GlyfsTer20
NM_001126107.2:c.2639_2657dup	NP_001119579.2:p.Ile887GlyfsTer20
NM_001126108.2:c.2615_2633dup MANE Select	NP_001119580.2:p.Ile879GlyfsTer20