Canonical Allele Identifier: CA391617665
Community Standard Title: NM_001365088.1(SLC12A6):c.3123T>A (p.Tyr1041Ter)
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34236119A>T , CM000677.2:g.34236119A>T GRCh38
NC_000015.9:g.34528320A>T , CM000677.1:g.34528320A>T GRCh37
NC_000015.8:g.32315612A>T NCBI36
NG_007951.1:g.106946T>A , LRG_270:g.106946T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365088.1:c.3123T>A MANE Select NP_001352017.1:p.Tyr1041Ter
ENST00000354181.8:c.3123T>A MANE Select ENSP00000346112.3:p.Tyr1041Ter
NM_001042494.1:c.2946T>A NP_001035959.1:p.Tyr982Ter
NM_001042494.2:c.2946T>A NP_001035959.1:p.Tyr982Ter
NM_001042495.1:c.2946T>A NP_001035960.1:p.Tyr982Ter
NM_001042495.2:c.2946T>A NP_001035960.1:p.Tyr982Ter
NM_001042496.1:c.3096T>A NP_001035961.1:p.Tyr1032Ter
NM_001042496.2:c.3096T>A NP_001035961.1:p.Tyr1032Ter
NM_001042497.1:c.3078T>A NP_001035962.1:p.Tyr1026Ter
NM_001042497.2:c.3078T>A NP_001035962.1:p.Tyr1026Ter
NM_005135.2:c.2970T>A , LRG_270t1:c.2970T>A NP_005126.1:p.Tyr990Ter
NM_133647.1:c.3123T>A , LRG_270t2:c.3123T>A NP_598408.1:p.Tyr1041Ter
NM_133647.2:c.3123T>A NP_598408.1:p.Tyr1041Ter
ENST00000290209.9:c.2970T>A ENSP00000290209.5:p.Tyr990Ter
ENST00000354181.7:c.3123T>A ENSP00000346112.3:p.Tyr1041Ter
ENST00000397702.6:c.2946T>A ENSP00000380814.2:p.Tyr982Ter
ENST00000397707.6:c.3078T>A ENSP00000380819.2:p.Tyr1026Ter
ENST00000458406.6:c.2946T>A ENSP00000387725.2:p.Tyr982Ter
ENST00000558589.5:c.3096T>A ENSP00000452776.1:p.Tyr1032Ter
ENST00000558667.5:c.3123T>A ENSP00000453473.1:p.Tyr1041Ter
ENST00000559523.5:c.*146T>A ENSP00000452904.1:n.*146T>A
ENST00000559664.5:c.*332T>A ENSP00000453702.1:n.*332T>A
ENST00000560164.5:c.2559T>A ENSP00000452705.1:p.Tyr853Ter
ENST00000560611.5:c.3123T>A ENSP00000454168.1:p.Tyr1041Ter
ENST00000561080.5:c.*361T>A ENSP00000454069.1:n.*361T>A
ENST00000676379.1:c.3123T>A ENSP00000502539.1:p.Tyr1041Ter
XM_006720793.2:c.2976T>A XP_006720856.1:p.Tyr992Ter
XM_006720793.4:c.2976T>A XP_006720856.1:p.Tyr992Ter
XM_011522267.1:c.3123T>A XP_011520569.1:p.Tyr1041Ter
XM_011522268.1:c.3123T>A XP_011520570.1:p.Tyr1041Ter
XR_429476.2:n.3129T>A
XR_931960.3:n.4402T>A