Canonical Allele Identifier: CA391617881
Community Standard Title: NM_001365088.1(SLC12A6):c.3031C>G (p.Arg1011Gly)
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34236719G>C , CM000677.2:g.34236719G>C GRCh38
NC_000015.9:g.34528920G>C , CM000677.1:g.34528920G>C GRCh37
NC_000015.8:g.32316212G>C NCBI36
NG_007951.1:g.106346C>G , LRG_270:g.106346C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365088.1:c.3031C>G MANE Select NP_001352017.1:p.Arg1011Gly
ENST00000354181.8:c.3031C>G MANE Select ENSP00000346112.3:p.Arg1011Gly
NM_001042494.1:c.2854C>G NP_001035959.1:p.Arg952Gly
NM_001042494.2:c.2854C>G NP_001035959.1:p.Arg952Gly
NM_001042495.1:c.2854C>G NP_001035960.1:p.Arg952Gly
NM_001042495.2:c.2854C>G NP_001035960.1:p.Arg952Gly
NM_001042496.1:c.3004C>G NP_001035961.1:p.Arg1002Gly
NM_001042496.2:c.3004C>G NP_001035961.1:p.Arg1002Gly
NM_001042497.1:c.2986C>G NP_001035962.1:p.Arg996Gly
NM_001042497.2:c.2986C>G NP_001035962.1:p.Arg996Gly
NM_005135.2:c.2878C>G , LRG_270t1:c.2878C>G NP_005126.1:p.Arg960Gly
NM_133647.1:c.3031C>G , LRG_270t2:c.3031C>G NP_598408.1:p.Arg1011Gly
NM_133647.2:c.3031C>G NP_598408.1:p.Arg1011Gly
ENST00000290209.9:c.2878C>G ENSP00000290209.5:p.Arg960Gly
ENST00000354181.7:c.3031C>G ENSP00000346112.3:p.Arg1011Gly
ENST00000397702.6:c.2854C>G ENSP00000380814.2:p.Arg952Gly
ENST00000397707.6:c.2986C>G ENSP00000380819.2:p.Arg996Gly
ENST00000458406.6:c.2854C>G ENSP00000387725.2:p.Arg952Gly
ENST00000558589.5:c.3004C>G ENSP00000452776.1:p.Arg1002Gly
ENST00000558667.5:c.3031C>G ENSP00000453473.1:p.Arg1011Gly
ENST00000559523.5:c.*54C>G ENSP00000452904.1:n.*54C>G
ENST00000559664.5:c.*240C>G ENSP00000453702.1:n.*240C>G
ENST00000560164.5:c.2467C>G ENSP00000452705.1:p.Arg823Gly
ENST00000560611.5:c.3031C>G ENSP00000454168.1:p.Arg1011Gly
ENST00000561080.5:c.*269C>G ENSP00000454069.1:n.*269C>G
ENST00000676379.1:c.3031C>G ENSP00000502539.1:p.Arg1011Gly
XM_006720793.2:c.2884C>G XP_006720856.1:p.Arg962Gly
XM_006720793.4:c.2884C>G XP_006720856.1:p.Arg962Gly
XM_011522267.1:c.3031C>G XP_011520569.1:p.Arg1011Gly
XM_011522268.1:c.3031C>G XP_011520570.1:p.Arg1011Gly
XR_429476.2:n.3037C>G
XR_931960.1:n.3066C>G
XR_931960.3:n.4310C>G