Canonical Allele Identifier: CA977655855

Gene: SLC12A3

Linked Data

• gnomAD v3: 16-56902522-T-TGGGGG
• gnomAD v4: 16-56902522-T-TGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902523_56902527dup , CM000678.2:g.56902523_56902527dup	GRCh38
NC_000016.9:g.56936435_56936439dup , CM000678.1:g.56936435_56936439dup	GRCh37
NC_000016.8:g.55493936_55493940dup	NCBI36
NG_009386.1:g.42317_42321dup
NG_009386.2:g.42317_42321dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+15_2856+19dup MANE Select	ENSP00000456149.2:n.2856+15_2856+19dup
ENST00000262502.5:c.2853+15_2853+19dup	ENSP00000262502.5:n.2853+15_2853+19dup
ENST00000438926.6:c.2883+15_2883+19dup	ENSP00000402152.2:n.2883+15_2883+19dup
ENST00000563236.5:c.2856+15_2856+19dup	ENSP00000456149.1:n.2856+15_2856+19dup
ENST00000566786.5:c.2880+15_2880+19dup	ENSP00000457552.1:n.2880+15_2880+19dup
ENST00000569002.1:n.287+15_287+19dup
NM_000339.2:c.2883+15_2883+19dup	NP_000330.2:n.2883+15_2883+19dup
NM_001126107.1:c.2880+15_2880+19dup	NP_001119579.1:n.2880+15_2880+19dup
NM_001126108.1:c.2856+15_2856+19dup	NP_001119580.1:n.2856+15_2856+19dup
XM_005256119.1:c.2853+15_2853+19dup	XP_005256176.1:n.2853+15_2853+19dup
XM_005256119.2:c.2853+15_2853+19dup	XP_005256176.1:n.2853+15_2853+19dup
NM_000339.3:c.2883+15_2883+19dup	NP_000330.3:n.2883+15_2883+19dup
NM_001126107.2:c.2880+15_2880+19dup	NP_001119579.2:n.2880+15_2880+19dup
NM_001126108.2:c.2856+15_2856+19dup MANE Select	NP_001119580.2:n.2856+15_2856+19dup