Canonical Allele Identifier: CA8069123

Gene: SLC12A3

Linked Data

• dbSNP Id: rs775333842
• ExAC: 16:56903976 TG / T
• gnomAD v2: 16-56903976-TG-T
• gnomAD v4: 16-56870064-TG-T
• MyVariant Identifiers: chr16:g.56903977del (hg19) ; chr16:g.56870065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870066del , CM000678.2:g.56870066del	GRCh38
NC_000016.9:g.56903978del , CM000678.1:g.56903978del	GRCh37
NC_000016.8:g.55461479del	NCBI36
NG_009386.1:g.9860del
NG_009386.2:g.9860del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.602-30del MANE Select	ENSP00000456149.2:n.602-30del
ENST00000262502.5:c.599-30del	ENSP00000262502.5:n.599-30del
ENST00000438926.6:c.602-30del	ENSP00000402152.2:n.602-30del
ENST00000563236.5:c.602-30del	ENSP00000456149.1:n.602-30del
ENST00000566786.5:c.599-30del	ENSP00000457552.1:n.599-30del
NM_000339.2:c.602-30del	NP_000330.2:n.602-30del
NM_001126107.1:c.599-30del	NP_001119579.1:n.599-30del
NM_001126108.1:c.602-30del	NP_001119580.1:n.602-30del
XM_005256119.1:c.599-30del	XP_005256176.1:n.599-30del
XM_005256119.2:c.599-30del	XP_005256176.1:n.599-30del
NM_000339.3:c.602-30del	NP_000330.3:n.602-30del
NM_001126107.2:c.599-30del	NP_001119579.2:n.599-30del
NM_001126108.2:c.602-30del MANE Select	NP_001119580.2:n.602-30del