Canonical Allele Identifier: CA977638711

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055100845
• gnomAD v3: 16-56871812-T-G
• gnomAD v4: 16-56871812-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56871812T>G , CM000678.2:g.56871812T>G	GRCh38
NC_000016.9:g.56905724T>G , CM000678.1:g.56905724T>G	GRCh37
NC_000016.8:g.55463225T>G	NCBI36
NG_009386.1:g.11606T>G
NG_009386.2:g.11606T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.853-539T>G MANE Select	ENSP00000456149.2:n.853-539T>G
ENST00000262502.5:c.850-539T>G	ENSP00000262502.5:n.850-539T>G
ENST00000438926.6:c.853-539T>G	ENSP00000402152.2:n.853-539T>G
ENST00000563236.5:c.853-539T>G	ENSP00000456149.1:n.853-539T>G
ENST00000566786.5:c.850-539T>G	ENSP00000457552.1:n.850-539T>G
NM_000339.2:c.853-539T>G	NP_000330.2:n.853-539T>G
NM_001126107.1:c.850-539T>G	NP_001119579.1:n.850-539T>G
NM_001126108.1:c.853-539T>G	NP_001119580.1:n.853-539T>G
XM_005256119.1:c.850-539T>G	XP_005256176.1:n.850-539T>G
XM_005256119.2:c.850-539T>G	XP_005256176.1:n.850-539T>G
NM_000339.3:c.853-539T>G	NP_000330.3:n.853-539T>G
NM_001126107.2:c.850-539T>G	NP_001119579.2:n.850-539T>G
NM_001126108.2:c.853-539T>G MANE Select	NP_001119580.2:n.853-539T>G