Canonical Allele Identifier: CA3212154577
Community Standard Title: NM_001365088.1(SLC12A6):c.963C= (p.Tyr321=)
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34254503G= , CM000677.2:g.34254503G= GRCh38
NC_000015.9:g.34546704G= , CM000677.1:g.34546704G= GRCh37
NC_000015.8:g.32333996G= NCBI36
NG_007951.1:g.88562C= , LRG_270:g.88562C=

Transcript Alleles

HGVS Amino-acid Change
NM_001365088.1:c.963C= MANE Select NP_001352017.1:p.Tyr321=
ENST00000354181.8:c.963C= MANE Select ENSP00000346112.3:p.Tyr321=
NM_001042494.1:c.786C= NP_001035959.1:p.Tyr262=
NM_001042494.2:c.786C= NP_001035959.1:p.Tyr262=
NM_001042495.1:c.786C= NP_001035960.1:p.Tyr262=
NM_001042495.2:c.786C= NP_001035960.1:p.Tyr262=
NM_001042496.1:c.936C= NP_001035961.1:p.Tyr312=
NM_001042496.2:c.936C= NP_001035961.1:p.Tyr312=
NM_001042497.1:c.918C= NP_001035962.1:p.Tyr306=
NM_001042497.2:c.918C= NP_001035962.1:p.Tyr306=
NM_005135.2:c.810C= , LRG_270t1:c.810C= NP_005126.1:p.Tyr270=
NM_133647.1:c.963C= , LRG_270t2:c.963C= NP_598408.1:p.Tyr321=
NM_133647.2:c.963C= NP_598408.1:p.Tyr321=
ENST00000290209.9:c.810C= ENSP00000290209.5:p.Tyr270=
ENST00000354181.7:c.963C= ENSP00000346112.3:p.Tyr321=
ENST00000397702.6:c.786C= ENSP00000380814.2:p.Tyr262=
ENST00000397707.6:c.918C= ENSP00000380819.2:p.Tyr306=
ENST00000458406.6:c.786C= ENSP00000387725.2:p.Tyr262=
ENST00000558589.5:c.936C= ENSP00000452776.1:p.Tyr312=
ENST00000558667.5:c.963C= ENSP00000453473.1:p.Tyr321=
ENST00000559523.5:c.786C= ENSP00000452904.1:p.Tyr262=
ENST00000559664.5:c.963C= ENSP00000453702.1:p.Tyr321=
ENST00000560164.5:c.399C= ENSP00000452705.1:p.Tyr133=
ENST00000560611.5:c.963C= ENSP00000454168.1:p.Tyr321=
ENST00000561080.5:c.963C= ENSP00000454069.1:p.Tyr321=
ENST00000675289.1:n.1745C=
ENST00000676379.1:c.963C= ENSP00000502539.1:p.Tyr321=
XM_006720793.2:c.816C= XP_006720856.1:p.Tyr272=
XM_006720793.4:c.816C= XP_006720856.1:p.Tyr272=
XM_011522267.1:c.963C= XP_011520569.1:p.Tyr321=
XM_011522268.1:c.963C= XP_011520570.1:p.Tyr321=
XM_011522269.1:c.963C= XP_011520571.1:p.Tyr321=
XM_011522269.3:c.963C= XP_011520571.1:p.Tyr321=
XR_429476.2:n.969C=
XR_931960.1:n.969C=
XR_931960.3:n.2213C=
XR_931961.1:n.969C=