Canonical Allele Identifier: CA722005861

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1388922669
• gnomAD v4: 16-56870800-C-T
• MyVariant Identifiers: chr16:g.56904712C>T (hg19) ; chr16:g.56870800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870800C>T , CM000678.2:g.56870800C>T	GRCh38
NC_000016.9:g.56904712C>T , CM000678.1:g.56904712C>T	GRCh37
NC_000016.8:g.55462213C>T	NCBI36
NG_009386.1:g.10594C>T
NG_009386.2:g.10594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.852+64C>T MANE Select	ENSP00000456149.2:n.852+64C>T
ENST00000262502.5:c.849+64C>T	ENSP00000262502.5:n.849+64C>T
ENST00000438926.6:c.852+64C>T	ENSP00000402152.2:n.852+64C>T
ENST00000563236.5:c.852+64C>T	ENSP00000456149.1:n.852+64C>T
ENST00000566786.5:c.849+64C>T	ENSP00000457552.1:n.849+64C>T
NM_000339.2:c.852+64C>T	NP_000330.2:n.852+64C>T
NM_001126107.1:c.849+64C>T	NP_001119579.1:n.849+64C>T
NM_001126108.1:c.852+64C>T	NP_001119580.1:n.852+64C>T
XM_005256119.1:c.849+64C>T	XP_005256176.1:n.849+64C>T
XM_005256119.2:c.849+64C>T	XP_005256176.1:n.849+64C>T
NM_000339.3:c.852+64C>T	NP_000330.3:n.852+64C>T
NM_001126107.2:c.849+64C>T	NP_001119579.2:n.849+64C>T
NM_001126108.2:c.852+64C>T MANE Select	NP_001119580.2:n.852+64C>T