Canonical Allele Identifier: CA8070114

Gene: SLC12A3 MIR6863

Linked Data

• dbSNP Id: rs748157016
• ExAC: 16:56938241 G / GA
• gnomAD v2: 16-56938241-G-GA
• MyVariant Identifiers: chr16:g.56938241_56938242insA (hg19) ; chr16:g.56904329_56904330insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904330dup , CM000678.2:g.56904330dup	GRCh38
NC_000016.9:g.56938242dup , CM000678.1:g.56938242dup	GRCh37
NC_000016.8:g.55495743dup	NCBI36
NG_009386.1:g.44124dup
NG_009386.2:g.44124dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2857-65dup (SLC12A3) MANE Select	ENSP00000456149.2:n.2857-65dup
ENST00000262502.5:c.2854-65dup (SLC12A3)	ENSP00000262502.5:n.2854-65dup
ENST00000438926.6:c.2884-65dup (SLC12A3)	ENSP00000402152.2:n.2884-65dup
ENST00000563236.5:c.2857-65dup (SLC12A3)	ENSP00000456149.1:n.2857-65dup
ENST00000566786.5:c.2881-65dup (SLC12A3)	ENSP00000457552.1:n.2881-65dup
ENST00000569002.1:n.288-65dup (SLC12A3)
NM_000339.2:c.2884-65dup (SLC12A3)	NP_000330.2:n.2884-65dup
NM_001126107.1:c.2881-65dup (SLC12A3)	NP_001119579.1:n.2881-65dup
NM_001126108.1:c.2857-65dup (SLC12A3)	NP_001119580.1:n.2857-65dup
NR_106923.1:n.67dup (MIR6863)
XM_005256119.1:c.2854-65dup (SLC12A3)	XP_005256176.1:n.2854-65dup
XM_005256119.2:c.2854-65dup (SLC12A3)	XP_005256176.1:n.2854-65dup
NM_000339.3:c.2884-65dup (SLC12A3)	NP_000330.3:n.2884-65dup
NM_001126107.2:c.2881-65dup (SLC12A3)	NP_001119579.2:n.2881-65dup
NM_001126108.2:c.2857-65dup (SLC12A3) MANE Select	NP_001119580.2:n.2857-65dup