Canonical Allele Identifier: CA489412552
Gene: SLC12A6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.34531272G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34239071G>C , CM000677.2:g.34239071G>C GRCh38
NC_000015.9:g.34531272G>C , CM000677.1:g.34531272G>C GRCh37
NC_000015.8:g.32318564G>C NCBI36
NG_007951.1:g.103994C>G , LRG_270:g.103994C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354181.8:c.2526C>G MANE Select ENSP00000346112.3:p.Leu842=
ENST00000676379.1:c.2526C>G ENSP00000502539.1:p.Leu842=
ENST00000290209.9:c.2373C>G ENSP00000290209.5:p.Leu791=
ENST00000354181.7:c.2526C>G ENSP00000346112.3:p.Leu842=
ENST00000397702.6:c.2349C>G ENSP00000380814.2:p.Leu783=
ENST00000397707.6:c.2481C>G ENSP00000380819.2:p.Leu827=
ENST00000458406.6:c.2349C>G ENSP00000387725.2:p.Leu783=
ENST00000558589.5:c.2499C>G ENSP00000452776.1:p.Leu833=
ENST00000558667.5:c.2526C>G ENSP00000453473.1:p.Leu842=
ENST00000558950.1:n.474C>G
ENST00000559523.5:c.2349C>G ENSP00000452904.1:p.Leu783=
ENST00000559664.5:c.2526C>G ENSP00000453702.1:p.Leu842=
ENST00000560164.5:c.1962C>G ENSP00000452705.1:p.Leu654=
ENST00000560611.5:c.2526C>G ENSP00000454168.1:p.Leu842=
ENST00000561080.5:c.2526C>G ENSP00000454069.1:p.Leu842=
NM_001042494.1:c.2349C>G NP_001035959.1:p.Leu783=
NM_001042495.1:c.2349C>G NP_001035960.1:p.Leu783=
NM_001042496.1:c.2499C>G NP_001035961.1:p.Leu833=
NM_001042497.1:c.2481C>G NP_001035962.1:p.Leu827=
NM_005135.2:c.2373C>G , LRG_270t1:c.2373C>G NP_005126.1:p.Leu791=
NM_133647.1:c.2526C>G , LRG_270t2:c.2526C>G NP_598408.1:p.Leu842=
XM_006720793.2:c.2379C>G XP_006720856.1:p.Leu793=
XM_011522267.1:c.2526C>G XP_011520569.1:p.Leu842=
XM_011522268.1:c.2526C>G XP_011520570.1:p.Leu842=
XR_429476.2:n.2532C>G
XR_931960.1:n.2532C>G
XR_931961.1:n.2533C>G
NM_001365088.1:c.2526C>G MANE Select NP_001352017.1:p.Leu842=
XM_006720793.4:c.2379C>G XP_006720856.1:p.Leu793=
XR_931960.3:n.3776C>G
NM_001042494.2:c.2349C>G NP_001035959.1:p.Leu783=
NM_001042495.2:c.2349C>G NP_001035960.1:p.Leu783=
NM_001042496.2:c.2499C>G NP_001035961.1:p.Leu833=
NM_001042497.2:c.2481C>G NP_001035962.1:p.Leu827=
NM_133647.2:c.2526C>G NP_598408.1:p.Leu842=