Canonical Allele Identifier: CA3212187252
Community Standard Title: NM_001365088.1(SLC12A6):c.901A= (p.Ile301=)
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34254565T= , CM000677.2:g.34254565T= GRCh38
NC_000015.9:g.34546766T= , CM000677.1:g.34546766T= GRCh37
NC_000015.8:g.32334058T= NCBI36
NG_007951.1:g.88500A= , LRG_270:g.88500A=

Transcript Alleles

HGVS Amino-acid Change
NM_001365088.1:c.901A= MANE Select NP_001352017.1:p.Ile301=
ENST00000354181.8:c.901A= MANE Select ENSP00000346112.3:p.Ile301=
NM_001042494.1:c.724A= NP_001035959.1:p.Ile242=
NM_001042494.2:c.724A= NP_001035959.1:p.Ile242=
NM_001042495.1:c.724A= NP_001035960.1:p.Ile242=
NM_001042495.2:c.724A= NP_001035960.1:p.Ile242=
NM_001042496.1:c.874A= NP_001035961.1:p.Ile292=
NM_001042496.2:c.874A= NP_001035961.1:p.Ile292=
NM_001042497.1:c.856A= NP_001035962.1:p.Ile286=
NM_001042497.2:c.856A= NP_001035962.1:p.Ile286=
NM_005135.2:c.748A= , LRG_270t1:c.748A= NP_005126.1:p.Ile250=
NM_133647.1:c.901A= , LRG_270t2:c.901A= NP_598408.1:p.Ile301=
NM_133647.2:c.901A= NP_598408.1:p.Ile301=
ENST00000290209.9:c.748A= ENSP00000290209.5:p.Ile250=
ENST00000354181.7:c.901A= ENSP00000346112.3:p.Ile301=
ENST00000397702.6:c.724A= ENSP00000380814.2:p.Ile242=
ENST00000397707.6:c.856A= ENSP00000380819.2:p.Ile286=
ENST00000458406.6:c.724A= ENSP00000387725.2:p.Ile242=
ENST00000558589.5:c.874A= ENSP00000452776.1:p.Ile292=
ENST00000558667.5:c.901A= ENSP00000453473.1:p.Ile301=
ENST00000559523.5:c.724A= ENSP00000452904.1:p.Ile242=
ENST00000559664.5:c.901A= ENSP00000453702.1:p.Ile301=
ENST00000560164.5:c.337A= ENSP00000452705.1:p.Ile113=
ENST00000560611.5:c.901A= ENSP00000454168.1:p.Ile301=
ENST00000561080.5:c.901A= ENSP00000454069.1:p.Ile301=
ENST00000675289.1:n.1683A=
ENST00000676379.1:c.901A= ENSP00000502539.1:p.Ile301=
XM_006720793.2:c.754A= XP_006720856.1:p.Ile252=
XM_006720793.4:c.754A= XP_006720856.1:p.Ile252=
XM_011522267.1:c.901A= XP_011520569.1:p.Ile301=
XM_011522268.1:c.901A= XP_011520570.1:p.Ile301=
XM_011522269.1:c.901A= XP_011520571.1:p.Ile301=
XM_011522269.3:c.901A= XP_011520571.1:p.Ile301=
XR_429476.2:n.907A=
XR_931960.1:n.907A=
XR_931960.3:n.2151A=
XR_931961.1:n.907A=