Canonical Allele Identifier: CA2224353835
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56879324T= , CM000678.2:g.56879324T= GRCh38
NC_000016.9:g.56913236T= , CM000678.1:g.56913236T= GRCh37
NC_000016.8:g.55470737T= NCBI36
NG_009386.1:g.19118T=
NG_009386.2:g.19118T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1335+97T= MANE Select ENSP00000456149.2:n.1335+97T=
ENST00000262502.5:c.1332+97T= ENSP00000262502.5:n.1332+97T=
ENST00000438926.6:c.1335+97T= ENSP00000402152.2:n.1335+97T=
ENST00000563236.5:c.1335+97T= ENSP00000456149.1:n.1335+97T=
ENST00000566786.5:c.1332+97T= ENSP00000457552.1:n.1332+97T=
NM_000339.2:c.1335+97T= NP_000330.2:n.1335+97T=
NM_001126107.1:c.1332+97T= NP_001119579.1:n.1332+97T=
NM_001126108.1:c.1335+97T= NP_001119580.1:n.1335+97T=
XM_005256119.1:c.1332+97T= XP_005256176.1:n.1332+97T=
XM_005256119.2:c.1332+97T= XP_005256176.1:n.1332+97T=
NM_000339.3:c.1335+97T= NP_000330.3:n.1335+97T=
NM_001126107.2:c.1332+97T= NP_001119579.2:n.1332+97T=
NM_001126108.2:c.1335+97T= MANE Select NP_001119580.2:n.1335+97T=