Canonical Allele Identifier: CA392318388

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48288516T>G , CM000677.2:g.48288516T>G	GRCh38
NC_000015.9:g.48580713T>G , CM000677.1:g.48580713T>G	GRCh37
NC_000015.8:g.46368005T>G	NCBI36
NG_021301.1:g.87216T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.2873T>G MANE Select	NP_000329.2:p.Val958Gly
ENST00000380993.8:c.2873T>G MANE Select	ENSP00000370381.3:p.Val958Gly
NM_000338.2:c.2873T>G	NP_000329.2:p.Val958Gly
NM_001184832.1:c.2873T>G	NP_001171761.1:p.Val958Gly
NM_001184832.2:c.2873T>G	NP_001171761.1:p.Val958Gly
NM_001384136.1:c.2873T>G	NP_001371065.1:p.Val958Gly
ENST00000380993.7:c.2873T>G	ENSP00000370381.3:p.Val958Gly
ENST00000396577.7:c.2873T>G	ENSP00000379822.3:p.Val958Gly
ENST00000558252.5:n.6996T>G
ENST00000558405.5:c.2873T>G	ENSP00000453409.1:p.Val958Gly
ENST00000560692.5:n.7012T>G
ENST00000646012.1:c.3011T>G	ENSP00000495813.1:p.Val1004Gly
ENST00000647232.1:c.2873T>G	ENSP00000493875.1:p.Val958Gly
ENST00000647546.1:c.2873T>G	ENSP00000495332.1:p.Val958Gly
ENST00000686073.1:c.2873T>G	ENSP00000508901.1:p.Val958Gly
XM_005254605.1:c.2969T>G	XP_005254662.1:p.Val990Gly
XM_005254606.1:c.2873T>G	XP_005254663.1:p.Val958Gly
XM_005254606.2:c.2873T>G	XP_005254663.1:p.Val958Gly
XM_006720656.1:c.2969T>G	XP_006720719.1:p.Val990Gly
XR_001751523.1:n.1001+1262A>C