Canonical Allele Identifier: CA2224353762
Community Standard Title: NM_001126108.2(SLC12A3):c.1261T= (p.Cys421=)
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56879153T= , CM000678.2:g.56879153T= GRCh38
NC_000016.9:g.56913065T= , CM000678.1:g.56913065T= GRCh37
NC_000016.8:g.55470566T= NCBI36
NG_009386.1:g.18947T=
NG_009386.2:g.18947T=

Transcript Alleles

HGVS Amino-acid Change
NM_001126108.2:c.1261T= MANE Select NP_001119580.2:p.Cys421=
ENST00000563236.6:c.1261T= MANE Select ENSP00000456149.2:p.Cys421=
NM_000339.2:c.1261T= NP_000330.2:p.Cys421=
NM_000339.3:c.1261T= NP_000330.3:p.Cys421=
NM_001126107.1:c.1258T= NP_001119579.1:p.Cys420=
NM_001126107.2:c.1258T= NP_001119579.2:p.Cys420=
NM_001126108.1:c.1261T= NP_001119580.1:p.Cys421=
ENST00000262502.5:c.1258T= ENSP00000262502.5:p.Cys420=
ENST00000438926.6:c.1261T= ENSP00000402152.2:p.Cys421=
ENST00000563236.5:c.1261T= ENSP00000456149.1:p.Cys421=
ENST00000566786.5:c.1258T= ENSP00000457552.1:p.Cys420=
XM_005256119.1:c.1258T= XP_005256176.1:p.Cys420=
XM_005256119.2:c.1258T= XP_005256176.1:p.Cys420=