Canonical Allele Identifier: CA722005484

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1313954605
• gnomAD v4: 16-56870576-A-G
• MyVariant Identifiers: chr16:g.56904488A>G (hg19) ; chr16:g.56870576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870576A>G , CM000678.2:g.56870576A>G	GRCh38
NC_000016.9:g.56904488A>G , CM000678.1:g.56904488A>G	GRCh37
NC_000016.8:g.55461989A>G	NCBI36
NG_009386.1:g.10370A>G
NG_009386.2:g.10370A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.742-50A>G MANE Select	ENSP00000456149.2:n.742-50A>G
ENST00000262502.5:c.739-50A>G	ENSP00000262502.5:n.739-50A>G
ENST00000438926.6:c.742-50A>G	ENSP00000402152.2:n.742-50A>G
ENST00000563236.5:c.742-50A>G	ENSP00000456149.1:n.742-50A>G
ENST00000566786.5:c.739-50A>G	ENSP00000457552.1:n.739-50A>G
NM_000339.2:c.742-50A>G	NP_000330.2:n.742-50A>G
NM_001126107.1:c.739-50A>G	NP_001119579.1:n.739-50A>G
NM_001126108.1:c.742-50A>G	NP_001119580.1:n.742-50A>G
XM_005256119.1:c.739-50A>G	XP_005256176.1:n.739-50A>G
XM_005256119.2:c.739-50A>G	XP_005256176.1:n.739-50A>G
NM_000339.3:c.742-50A>G	NP_000330.3:n.742-50A>G
NM_001126107.2:c.739-50A>G	NP_001119579.2:n.739-50A>G
NM_001126108.2:c.742-50A>G MANE Select	NP_001119580.2:n.742-50A>G