Canonical Allele Identifier: CA8070122

Gene: SLC12A3

Linked Data

• dbSNP Id: rs370896606
• ExAC: 16:56938284 C / A
• gnomAD v2: 16-56938284-C-A
• gnomAD v3: 16-56904372-C-A
• gnomAD v4: 16-56904372-C-A
• MyVariant Identifiers: chr16:g.56938284C>A (hg19) ; chr16:g.56904372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904372C>A , CM000678.2:g.56904372C>A	GRCh38
NC_000016.9:g.56938284C>A , CM000678.1:g.56938284C>A	GRCh37
NC_000016.8:g.55495785C>A	NCBI36
NG_009386.1:g.44166C>A
NG_009386.2:g.44166C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2857-23C>A MANE Select	ENSP00000456149.2:n.2857-23C>A
ENST00000262502.5:c.2854-23C>A	ENSP00000262502.5:n.2854-23C>A
ENST00000438926.6:c.2884-23C>A	ENSP00000402152.2:n.2884-23C>A
ENST00000563236.5:c.2857-23C>A	ENSP00000456149.1:n.2857-23C>A
ENST00000566786.5:c.2881-23C>A	ENSP00000457552.1:n.2881-23C>A
ENST00000569002.1:n.288-23C>A
NM_000339.2:c.2884-23C>A	NP_000330.2:n.2884-23C>A
NM_001126107.1:c.2881-23C>A	NP_001119579.1:n.2881-23C>A
NM_001126108.1:c.2857-23C>A	NP_001119580.1:n.2857-23C>A
XM_005256119.1:c.2854-23C>A	XP_005256176.1:n.2854-23C>A
XM_005256119.2:c.2854-23C>A	XP_005256176.1:n.2854-23C>A
NM_000339.3:c.2884-23C>A	NP_000330.3:n.2884-23C>A
NM_001126107.2:c.2881-23C>A	NP_001119579.2:n.2881-23C>A
NM_001126108.2:c.2857-23C>A MANE Select	NP_001119580.2:n.2857-23C>A