Canonical Allele Identifier: CA8070195

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56913389C>T , CM000678.2:g.56913389C>T	GRCh38
NC_000016.9:g.56947301C>T , CM000678.1:g.56947301C>T	GRCh37
NC_000016.8:g.55504802C>T	NCBI36
NG_009386.1:g.53183C>T
NG_009386.2:g.53183C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.3050C>T MANE Select	NP_001119580.2:p.Thr1017Ile
ENST00000563236.6:c.3050C>T MANE Select	ENSP00000456149.2:p.Thr1017Ile
NM_000339.2:c.3077C>T	NP_000330.2:p.Thr1026Ile
NM_000339.3:c.3077C>T	NP_000330.3:p.Thr1026Ile
NM_001126107.1:c.3074C>T	NP_001119579.1:p.Thr1025Ile
NM_001126107.2:c.3074C>T	NP_001119579.2:p.Thr1025Ile
NM_001126108.1:c.3050C>T	NP_001119580.1:p.Thr1017Ile
ENST00000262502.5:c.3047C>T	ENSP00000262502.5:p.Thr1016Ile
ENST00000438926.6:c.3077C>T	ENSP00000402152.2:p.Thr1026Ile
ENST00000563236.5:c.3050C>T	ENSP00000456149.1:p.Thr1017Ile
ENST00000563352.1:n.198C>T
ENST00000566786.5:c.3074C>T	ENSP00000457552.1:p.Thr1025Ile
XM_005256119.1:c.3047C>T	XP_005256176.1:p.Thr1016Ile
XM_005256119.2:c.3047C>T	XP_005256176.1:p.Thr1016Ile