Canonical Allele Identifier: CA622342474

Gene: SLC12A3 MIR6863

Linked Data

• dbSNP Id: rs1320955704
• gnomAD v2: 16-56938238-A-AT
• gnomAD v4: 16-56904326-A-AT
• MyVariant Identifiers: chr16:g.56938238_56938239insT (hg19) ; chr16:g.56904326_56904327insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904327dup , CM000678.2:g.56904327dup	GRCh38
NC_000016.9:g.56938239dup , CM000678.1:g.56938239dup	GRCh37
NC_000016.8:g.55495740dup	NCBI36
NG_009386.1:g.44121dup
NG_009386.2:g.44121dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2857-68dup (SLC12A3) MANE Select	ENSP00000456149.2:n.2857-68dup
ENST00000262502.5:c.2854-68dup (SLC12A3)	ENSP00000262502.5:n.2854-68dup
ENST00000438926.6:c.2884-68dup (SLC12A3)	ENSP00000402152.2:n.2884-68dup
ENST00000563236.5:c.2857-68dup (SLC12A3)	ENSP00000456149.1:n.2857-68dup
ENST00000566786.5:c.2881-68dup (SLC12A3)	ENSP00000457552.1:n.2881-68dup
ENST00000569002.1:n.288-68dup (SLC12A3)
NM_000339.2:c.2884-68dup (SLC12A3)	NP_000330.2:n.2884-68dup
NM_001126107.1:c.2881-68dup (SLC12A3)	NP_001119579.1:n.2881-68dup
NM_001126108.1:c.2857-68dup (SLC12A3)	NP_001119580.1:n.2857-68dup
NR_106923.1:n.64dup (MIR6863)
XM_005256119.1:c.2854-68dup (SLC12A3)	XP_005256176.1:n.2854-68dup
XM_005256119.2:c.2854-68dup (SLC12A3)	XP_005256176.1:n.2854-68dup
NM_000339.3:c.2884-68dup (SLC12A3)	NP_000330.3:n.2884-68dup
NM_001126107.2:c.2881-68dup (SLC12A3)	NP_001119579.2:n.2881-68dup
NM_001126108.2:c.2857-68dup (SLC12A3) MANE Select	NP_001119580.2:n.2857-68dup