Canonical Allele Identifier: CA489412565
Gene: SLC12A6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.34531278G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34239077G>C , CM000677.2:g.34239077G>C GRCh38
NC_000015.9:g.34531278G>C , CM000677.1:g.34531278G>C GRCh37
NC_000015.8:g.32318570G>C NCBI36
NG_007951.1:g.103988C>G , LRG_270:g.103988C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354181.8:c.2520C>G MANE Select ENSP00000346112.3:p.Ser840=
ENST00000676379.1:c.2520C>G ENSP00000502539.1:p.Ser840=
ENST00000290209.9:c.2367C>G ENSP00000290209.5:p.Ser789=
ENST00000354181.7:c.2520C>G ENSP00000346112.3:p.Ser840=
ENST00000397702.6:c.2343C>G ENSP00000380814.2:p.Ser781=
ENST00000397707.6:c.2475C>G ENSP00000380819.2:p.Ser825=
ENST00000458406.6:c.2343C>G ENSP00000387725.2:p.Ser781=
ENST00000558589.5:c.2493C>G ENSP00000452776.1:p.Ser831=
ENST00000558667.5:c.2520C>G ENSP00000453473.1:p.Ser840=
ENST00000558950.1:n.468C>G
ENST00000559523.5:c.2343C>G ENSP00000452904.1:p.Ser781=
ENST00000559664.5:c.2520C>G ENSP00000453702.1:p.Ser840=
ENST00000560164.5:c.1956C>G ENSP00000452705.1:p.Ser652=
ENST00000560611.5:c.2520C>G ENSP00000454168.1:p.Ser840=
ENST00000561080.5:c.2520C>G ENSP00000454069.1:p.Ser840=
NM_001042494.1:c.2343C>G NP_001035959.1:p.Ser781=
NM_001042495.1:c.2343C>G NP_001035960.1:p.Ser781=
NM_001042496.1:c.2493C>G NP_001035961.1:p.Ser831=
NM_001042497.1:c.2475C>G NP_001035962.1:p.Ser825=
NM_005135.2:c.2367C>G , LRG_270t1:c.2367C>G NP_005126.1:p.Ser789=
NM_133647.1:c.2520C>G , LRG_270t2:c.2520C>G NP_598408.1:p.Ser840=
XM_006720793.2:c.2373C>G XP_006720856.1:p.Ser791=
XM_011522267.1:c.2520C>G XP_011520569.1:p.Ser840=
XM_011522268.1:c.2520C>G XP_011520570.1:p.Ser840=
XR_429476.2:n.2526C>G
XR_931960.1:n.2526C>G
XR_931961.1:n.2527C>G
NM_001365088.1:c.2520C>G MANE Select NP_001352017.1:p.Ser840=
XM_006720793.4:c.2373C>G XP_006720856.1:p.Ser791=
XR_931960.3:n.3770C>G
NM_001042494.2:c.2343C>G NP_001035959.1:p.Ser781=
NM_001042495.2:c.2343C>G NP_001035960.1:p.Ser781=
NM_001042496.2:c.2493C>G NP_001035961.1:p.Ser831=
NM_001042497.2:c.2475C>G NP_001035962.1:p.Ser825=
NM_133647.2:c.2520C>G NP_598408.1:p.Ser840=