Canonical Allele Identifier: CA391618017
Community Standard Title: NM_001365088.1(SLC12A6):c.2971A>G (p.Thr991Ala)
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34236779T>C , CM000677.2:g.34236779T>C GRCh38
NC_000015.9:g.34528980T>C , CM000677.1:g.34528980T>C GRCh37
NC_000015.8:g.32316272T>C NCBI36
NG_007951.1:g.106286A>G , LRG_270:g.106286A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365088.1:c.2971A>G MANE Select NP_001352017.1:p.Thr991Ala
ENST00000354181.8:c.2971A>G MANE Select ENSP00000346112.3:p.Thr991Ala
NM_001042494.1:c.2794A>G NP_001035959.1:p.Thr932Ala
NM_001042494.2:c.2794A>G NP_001035959.1:p.Thr932Ala
NM_001042495.1:c.2794A>G NP_001035960.1:p.Thr932Ala
NM_001042495.2:c.2794A>G NP_001035960.1:p.Thr932Ala
NM_001042496.1:c.2944A>G NP_001035961.1:p.Thr982Ala
NM_001042496.2:c.2944A>G NP_001035961.1:p.Thr982Ala
NM_001042497.1:c.2926A>G NP_001035962.1:p.Thr976Ala
NM_001042497.2:c.2926A>G NP_001035962.1:p.Thr976Ala
NM_005135.2:c.2818A>G , LRG_270t1:c.2818A>G NP_005126.1:p.Thr940Ala
NM_133647.1:c.2971A>G , LRG_270t2:c.2971A>G NP_598408.1:p.Thr991Ala
NM_133647.2:c.2971A>G NP_598408.1:p.Thr991Ala
ENST00000290209.9:c.2818A>G ENSP00000290209.5:p.Thr940Ala
ENST00000354181.7:c.2971A>G ENSP00000346112.3:p.Thr991Ala
ENST00000397702.6:c.2794A>G ENSP00000380814.2:p.Thr932Ala
ENST00000397707.6:c.2926A>G ENSP00000380819.2:p.Thr976Ala
ENST00000458406.6:c.2794A>G ENSP00000387725.2:p.Thr932Ala
ENST00000558589.5:c.2944A>G ENSP00000452776.1:p.Thr982Ala
ENST00000558667.5:c.2971A>G ENSP00000453473.1:p.Thr991Ala
ENST00000559523.5:c.2823A>G ENSP00000452904.1:p.Ala941=
ENST00000559664.5:c.*180A>G ENSP00000453702.1:n.*180A>G
ENST00000560164.5:c.2407A>G ENSP00000452705.1:p.Thr803Ala
ENST00000560611.5:c.2971A>G ENSP00000454168.1:p.Thr991Ala
ENST00000561080.5:c.*209A>G ENSP00000454069.1:n.*209A>G
ENST00000676379.1:c.2971A>G ENSP00000502539.1:p.Thr991Ala
XM_006720793.2:c.2824A>G XP_006720856.1:p.Thr942Ala
XM_006720793.4:c.2824A>G XP_006720856.1:p.Thr942Ala
XM_011522267.1:c.2971A>G XP_011520569.1:p.Thr991Ala
XM_011522268.1:c.2971A>G XP_011520570.1:p.Thr991Ala
XR_429476.2:n.2977A>G
XR_931960.1:n.3006A>G
XR_931960.3:n.4250A>G