Canonical Allele Identifier: CA977643918

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055206792
• gnomAD v3: 16-56879371-G-GTC
• gnomAD v4: 16-56879371-G-GTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879373_56879374dup , CM000678.2:g.56879373_56879374dup	GRCh38
NC_000016.9:g.56913285_56913286dup , CM000678.1:g.56913285_56913286dup	GRCh37
NC_000016.8:g.55470786_55470787dup	NCBI36
NG_009386.1:g.19167_19168dup
NG_009386.2:g.19167_19168dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1335+146_1335+147dup MANE Select	ENSP00000456149.2:n.1335+146_1335+147dup
ENST00000262502.5:c.1332+146_1332+147dup	ENSP00000262502.5:n.1332+146_1332+147dup
ENST00000438926.6:c.1335+146_1335+147dup	ENSP00000402152.2:n.1335+146_1335+147dup
ENST00000563236.5:c.1335+146_1335+147dup	ENSP00000456149.1:n.1335+146_1335+147dup
ENST00000566786.5:c.1332+146_1332+147dup	ENSP00000457552.1:n.1332+146_1332+147dup
NM_000339.2:c.1335+146_1335+147dup	NP_000330.2:n.1335+146_1335+147dup
NM_001126107.1:c.1332+146_1332+147dup	NP_001119579.1:n.1332+146_1332+147dup
NM_001126108.1:c.1335+146_1335+147dup	NP_001119580.1:n.1335+146_1335+147dup
XM_005256119.1:c.1332+146_1332+147dup	XP_005256176.1:n.1332+146_1332+147dup
XM_005256119.2:c.1332+146_1332+147dup	XP_005256176.1:n.1332+146_1332+147dup
NM_000339.3:c.1335+146_1335+147dup	NP_000330.3:n.1335+146_1335+147dup
NM_001126107.2:c.1332+146_1332+147dup	NP_001119579.2:n.1332+146_1332+147dup
NM_001126108.2:c.1335+146_1335+147dup MANE Select	NP_001119580.2:n.1335+146_1335+147dup