Canonical Allele Identifier: CA622338979

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055337793
• gnomAD v2: 16-56921712-T-TATA
• gnomAD v3: 16-56887800-T-TATA
• gnomAD v4: 16-56887800-T-TATA
• MyVariant Identifiers: chr16:g.56921712_56921713insATA (hg19) ; chr16:g.56887800_56887801insATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887800_56887801insATA , CM000678.2:g.56887800_56887801insATA	GRCh38
NC_000016.9:g.56921712_56921713insATA , CM000678.1:g.56921712_56921713insATA	GRCh37
NC_000016.8:g.55479213_55479214insATA	NCBI36
NG_009386.1:g.27594_27595insATA
NG_009386.2:g.27594_27595insATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2179-125_2179-124insATA MANE Select	ENSP00000456149.2:n.2179-125_2179-124insATA
ENST00000262502.5:c.2176-125_2176-124insATA	ENSP00000262502.5:n.2176-125_2176-124insATA
ENST00000438926.6:c.2179-125_2179-124insATA	ENSP00000402152.2:n.2179-125_2179-124insATA
ENST00000563236.5:c.2179-125_2179-124insATA	ENSP00000456149.1:n.2179-125_2179-124insATA
ENST00000566786.5:c.2176-125_2176-124insATA	ENSP00000457552.1:n.2176-125_2176-124insATA
NM_000339.2:c.2179-125_2179-124insATA	NP_000330.2:n.2179-125_2179-124insATA
NM_001126107.1:c.2176-125_2176-124insATA	NP_001119579.1:n.2176-125_2176-124insATA
NM_001126108.1:c.2179-125_2179-124insATA	NP_001119580.1:n.2179-125_2179-124insATA
XM_005256119.1:c.2176-125_2176-124insATA	XP_005256176.1:n.2176-125_2176-124insATA
XM_005256119.2:c.2176-125_2176-124insATA	XP_005256176.1:n.2176-125_2176-124insATA
NM_000339.3:c.2179-125_2179-124insATA	NP_000330.3:n.2179-125_2179-124insATA
NM_001126107.2:c.2176-125_2176-124insATA	NP_001119579.2:n.2176-125_2176-124insATA
NM_001126108.2:c.2179-125_2179-124insATA MANE Select	NP_001119580.2:n.2179-125_2179-124insATA