Canonical Allele Identifier: CA8070097

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1233451
• ClinVar RCV Id: RCV001617576
• dbSNP Id: rs35517929
• ExAC: 16:56938147 T / G
• gnomAD v2: 16-56938147-T-G
• gnomAD v3: 16-56904235-T-G
• gnomAD v4: 16-56904235-T-G
• MyVariant Identifiers: chr16:g.56938147T>G (hg19) ; chr16:g.56904235T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904235T>G , CM000678.2:g.56904235T>G	GRCh38
NC_000016.9:g.56938147T>G , CM000678.1:g.56938147T>G	GRCh37
NC_000016.8:g.55495648T>G	NCBI36
NG_009386.1:g.44029T>G
NG_009386.2:g.44029T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2857-160T>G MANE Select	ENSP00000456149.2:n.2857-160T>G
ENST00000262502.5:c.2854-160T>G	ENSP00000262502.5:n.2854-160T>G
ENST00000438926.6:c.2884-160T>G	ENSP00000402152.2:n.2884-160T>G
ENST00000563236.5:c.2857-160T>G	ENSP00000456149.1:n.2857-160T>G
ENST00000566786.5:c.2881-160T>G	ENSP00000457552.1:n.2881-160T>G
ENST00000569002.1:n.288-160T>G
NM_000339.2:c.2884-160T>G	NP_000330.2:n.2884-160T>G
NM_001126107.1:c.2881-160T>G	NP_001119579.1:n.2881-160T>G
NM_001126108.1:c.2857-160T>G	NP_001119580.1:n.2857-160T>G
XM_005256119.1:c.2854-160T>G	XP_005256176.1:n.2854-160T>G
XM_005256119.2:c.2854-160T>G	XP_005256176.1:n.2854-160T>G
NM_000339.3:c.2884-160T>G	NP_000330.3:n.2884-160T>G
NM_001126107.2:c.2881-160T>G	NP_001119579.2:n.2881-160T>G
NM_001126108.2:c.2857-160T>G MANE Select	NP_001119580.2:n.2857-160T>G