Canonical Allele Identifier: CA391620505
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34243993G>C , CM000677.2:g.34243993G>C GRCh38
NC_000015.9:g.34536194G>C , CM000677.1:g.34536194G>C GRCh37
NC_000015.8:g.32323486G>C NCBI36
NG_007951.1:g.99072C>G , LRG_270:g.99072C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354181.8:c.2023C>G MANE Select ENSP00000346112.3:p.Arg675Gly
ENST00000675289.1:n.2805C>G
ENST00000676379.1:c.2023C>G ENSP00000502539.1:p.Arg675Gly
ENST00000290209.9:c.1870C>G ENSP00000290209.5:p.Arg624Gly
ENST00000354181.7:c.2023C>G ENSP00000346112.3:p.Arg675Gly
ENST00000397702.6:c.1846C>G ENSP00000380814.2:p.Arg616Gly
ENST00000397707.6:c.1978C>G ENSP00000380819.2:p.Arg660Gly
ENST00000458406.6:c.1846C>G ENSP00000387725.2:p.Arg616Gly
ENST00000558589.5:c.1996C>G ENSP00000452776.1:p.Arg666Gly
ENST00000558667.5:c.2023C>G ENSP00000453473.1:p.Arg675Gly
ENST00000559523.5:c.1846C>G ENSP00000452904.1:p.Arg616Gly
ENST00000559664.5:c.2023C>G ENSP00000453702.1:p.Arg675Gly
ENST00000560023.1:n.136C>G
ENST00000560164.5:c.1459C>G ENSP00000452705.1:p.Arg487Gly
ENST00000560611.5:c.2023C>G ENSP00000454168.1:p.Arg675Gly
ENST00000561080.5:c.2023C>G ENSP00000454069.1:p.Arg675Gly
NM_001042494.1:c.1846C>G NP_001035959.1:p.Arg616Gly
NM_001042495.1:c.1846C>G NP_001035960.1:p.Arg616Gly
NM_001042496.1:c.1996C>G NP_001035961.1:p.Arg666Gly
NM_001042497.1:c.1978C>G NP_001035962.1:p.Arg660Gly
NM_005135.2:c.1870C>G , LRG_270t1:c.1870C>G NP_005126.1:p.Arg624Gly
NM_133647.1:c.2023C>G , LRG_270t2:c.2023C>G NP_598408.1:p.Arg675Gly
XM_006720793.2:c.1876C>G XP_006720856.1:p.Arg626Gly
XM_011522267.1:c.2023C>G XP_011520569.1:p.Arg675Gly
XM_011522268.1:c.2023C>G XP_011520570.1:p.Arg675Gly
XM_011522269.1:c.2023C>G XP_011520571.1:p.Arg675Gly
XR_429476.2:n.2029C>G
XR_931960.1:n.2029C>G
XR_931961.1:n.2030C>G
NM_001365088.1:c.2023C>G MANE Select NP_001352017.1:p.Arg675Gly
XM_006720793.4:c.1876C>G XP_006720856.1:p.Arg626Gly
XM_011522269.3:c.2023C>G XP_011520571.1:p.Arg675Gly
XR_931960.3:n.3273C>G
NM_001042494.2:c.1846C>G NP_001035959.1:p.Arg616Gly
NM_001042495.2:c.1846C>G NP_001035960.1:p.Arg616Gly
NM_001042496.2:c.1996C>G NP_001035961.1:p.Arg666Gly
NM_001042497.2:c.1978C>G NP_001035962.1:p.Arg660Gly
NM_133647.2:c.2023C>G NP_598408.1:p.Arg675Gly