Canonical Allele Identifier: CA395982138

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870639-C-G
• MyVariant Identifiers: chr16:g.56904551C>G (hg19) ; chr16:g.56870639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870639C>G , CM000678.2:g.56870639C>G	GRCh38
NC_000016.9:g.56904551C>G , CM000678.1:g.56904551C>G	GRCh37
NC_000016.8:g.55462052C>G	NCBI36
NG_009386.1:g.10433C>G
NG_009386.2:g.10433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.755C>G MANE Select	ENSP00000456149.2:p.Pro252Arg
ENST00000262502.5:c.752C>G	ENSP00000262502.5:p.Pro251Arg
ENST00000438926.6:c.755C>G	ENSP00000402152.2:p.Pro252Arg
ENST00000563236.5:c.755C>G	ENSP00000456149.1:p.Pro252Arg
ENST00000566786.5:c.752C>G	ENSP00000457552.1:p.Pro251Arg
NM_000339.2:c.755C>G	NP_000330.2:p.Pro252Arg
NM_001126107.1:c.752C>G	NP_001119579.1:p.Pro251Arg
NM_001126108.1:c.755C>G	NP_001119580.1:p.Pro252Arg
XM_005256119.1:c.752C>G	XP_005256176.1:p.Pro251Arg
XM_005256119.2:c.752C>G	XP_005256176.1:p.Pro251Arg
NM_000339.3:c.755C>G	NP_000330.3:p.Pro252Arg
NM_001126107.2:c.752C>G	NP_001119579.2:p.Pro251Arg
NM_001126108.2:c.755C>G MANE Select	NP_001119580.2:p.Pro252Arg