Canonical Allele Identifier: CA396005872

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56913317G>A , CM000678.2:g.56913317G>A	GRCh38
NC_000016.9:g.56947229G>A , CM000678.1:g.56947229G>A	GRCh37
NC_000016.8:g.55504730G>A	NCBI36
NG_009386.1:g.53111G>A
NG_009386.2:g.53111G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.2978G>A MANE Select	NP_001119580.2:p.Trp993Ter
ENST00000563236.6:c.2978G>A MANE Select	ENSP00000456149.2:p.Trp993Ter
NM_000339.2:c.3005G>A	NP_000330.2:p.Trp1002Ter
NM_000339.3:c.3005G>A	NP_000330.3:p.Trp1002Ter
NM_001126107.1:c.3002G>A	NP_001119579.1:p.Trp1001Ter
NM_001126107.2:c.3002G>A	NP_001119579.2:p.Trp1001Ter
NM_001126108.1:c.2978G>A	NP_001119580.1:p.Trp993Ter
ENST00000262502.5:c.2975G>A	ENSP00000262502.5:p.Trp992Ter
ENST00000438926.6:c.3005G>A	ENSP00000402152.2:p.Trp1002Ter
ENST00000563236.5:c.2978G>A	ENSP00000456149.1:p.Trp993Ter
ENST00000563352.1:n.126G>A
ENST00000566786.5:c.3002G>A	ENSP00000457552.1:p.Trp1001Ter
XM_005256119.1:c.2975G>A	XP_005256176.1:p.Trp992Ter
XM_005256119.2:c.2975G>A	XP_005256176.1:p.Trp992Ter