Canonical Allele Identifier: CA7463873
Community Standard Title: NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter)
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34235205G>A , CM000677.2:g.34235205G>A GRCh38
NC_000015.9:g.34527406G>A , CM000677.1:g.34527406G>A GRCh37
NC_000015.8:g.32314698G>A NCBI36
NG_007951.1:g.107860C>T , LRG_270:g.107860C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365088.1:c.3337C>T MANE Select NP_001352017.1:p.Arg1113Ter
ENST00000354181.8:c.3337C>T MANE Select ENSP00000346112.3:p.Arg1113Ter
NM_001042494.1:c.3160C>T NP_001035959.1:p.Arg1054Ter
NM_001042494.2:c.3160C>T NP_001035959.1:p.Arg1054Ter
NM_001042495.1:c.3160C>T NP_001035960.1:p.Arg1054Ter
NM_001042495.2:c.3160C>T NP_001035960.1:p.Arg1054Ter
NM_001042496.1:c.3310C>T NP_001035961.1:p.Arg1104Ter
NM_001042496.2:c.3310C>T NP_001035961.1:p.Arg1104Ter
NM_001042497.1:c.3292C>T NP_001035962.1:p.Arg1098Ter
NM_001042497.2:c.3292C>T NP_001035962.1:p.Arg1098Ter
NM_005135.2:c.3184C>T , LRG_270t1:c.3184C>T NP_005126.1:p.Arg1062Ter
NM_133647.1:c.3337C>T , LRG_270t2:c.3337C>T NP_598408.1:p.Arg1113Ter
NM_133647.2:c.3337C>T NP_598408.1:p.Arg1113Ter
ENST00000290209.9:c.3184C>T ENSP00000290209.5:p.Arg1062Ter
ENST00000354181.7:c.3337C>T ENSP00000346112.3:p.Arg1113Ter
ENST00000397702.6:c.3160C>T ENSP00000380814.2:p.Arg1054Ter
ENST00000397707.6:c.3292C>T ENSP00000380819.2:p.Arg1098Ter
ENST00000458406.6:c.3160C>T ENSP00000387725.2:p.Arg1054Ter
ENST00000558589.5:c.3310C>T ENSP00000452776.1:p.Arg1104Ter
ENST00000558667.5:c.3337C>T ENSP00000453473.1:p.Arg1113Ter
ENST00000559523.5:c.*360C>T ENSP00000452904.1:n.*360C>T
ENST00000559664.5:c.*546C>T ENSP00000453702.1:n.*546C>T
ENST00000560164.5:c.2773C>T ENSP00000452705.1:p.Arg925Ter
ENST00000560611.5:c.3337C>T ENSP00000454168.1:p.Arg1113Ter
ENST00000561080.5:c.*575C>T ENSP00000454069.1:n.*575C>T
ENST00000676379.1:c.3337C>T ENSP00000502539.1:p.Arg1113Ter
XM_006720793.2:c.3190C>T XP_006720856.1:p.Arg1064Ter
XM_006720793.4:c.3190C>T XP_006720856.1:p.Arg1064Ter
XM_011522267.1:c.3337C>T XP_011520569.1:p.Arg1113Ter
XM_011522268.1:c.3337C>T XP_011520570.1:p.Arg1113Ter
XR_429476.2:n.3343C>T
XR_931960.3:n.4616C>T