Canonical Allele Identifier: CA977638598

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055095905
• gnomAD v3: 16-56871435-C-A
• gnomAD v4: 16-56871435-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56871435C>A , CM000678.2:g.56871435C>A	GRCh38
NC_000016.9:g.56905347C>A , CM000678.1:g.56905347C>A	GRCh37
NC_000016.8:g.55462848C>A	NCBI36
NG_009386.1:g.11229C>A
NG_009386.2:g.11229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.852+699C>A MANE Select	ENSP00000456149.2:n.852+699C>A
ENST00000262502.5:c.849+699C>A	ENSP00000262502.5:n.849+699C>A
ENST00000438926.6:c.852+699C>A	ENSP00000402152.2:n.852+699C>A
ENST00000563236.5:c.852+699C>A	ENSP00000456149.1:n.852+699C>A
ENST00000566786.5:c.849+699C>A	ENSP00000457552.1:n.849+699C>A
NM_000339.2:c.852+699C>A	NP_000330.2:n.852+699C>A
NM_001126107.1:c.849+699C>A	NP_001119579.1:n.849+699C>A
NM_001126108.1:c.852+699C>A	NP_001119580.1:n.852+699C>A
XM_005256119.1:c.849+699C>A	XP_005256176.1:n.849+699C>A
XM_005256119.2:c.849+699C>A	XP_005256176.1:n.849+699C>A
NM_000339.3:c.852+699C>A	NP_000330.3:n.852+699C>A
NM_001126107.2:c.849+699C>A	NP_001119579.2:n.849+699C>A
NM_001126108.2:c.852+699C>A MANE Select	NP_001119580.2:n.852+699C>A