Canonical Allele Identifier: CA489412551
Gene: SLC12A6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.34531269G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34239068G>T , CM000677.2:g.34239068G>T GRCh38
NC_000015.9:g.34531269G>T , CM000677.1:g.34531269G>T GRCh37
NC_000015.8:g.32318561G>T NCBI36
NG_007951.1:g.103997C>A , LRG_270:g.103997C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000354181.8:c.2529C>A MANE Select ENSP00000346112.3:p.Ile843=
ENST00000676379.1:c.2529C>A ENSP00000502539.1:p.Ile843=
ENST00000290209.9:c.2376C>A ENSP00000290209.5:p.Ile792=
ENST00000354181.7:c.2529C>A ENSP00000346112.3:p.Ile843=
ENST00000397702.6:c.2352C>A ENSP00000380814.2:p.Ile784=
ENST00000397707.6:c.2484C>A ENSP00000380819.2:p.Ile828=
ENST00000458406.6:c.2352C>A ENSP00000387725.2:p.Ile784=
ENST00000558589.5:c.2502C>A ENSP00000452776.1:p.Ile834=
ENST00000558667.5:c.2529C>A ENSP00000453473.1:p.Ile843=
ENST00000558950.1:n.477C>A
ENST00000559523.5:c.2352C>A ENSP00000452904.1:p.Ile784=
ENST00000559664.5:c.2529C>A ENSP00000453702.1:p.Ile843=
ENST00000560164.5:c.1965C>A ENSP00000452705.1:p.Ile655=
ENST00000560611.5:c.2529C>A ENSP00000454168.1:p.Ile843=
ENST00000561080.5:c.2529C>A ENSP00000454069.1:p.Ile843=
NM_001042494.1:c.2352C>A NP_001035959.1:p.Ile784=
NM_001042495.1:c.2352C>A NP_001035960.1:p.Ile784=
NM_001042496.1:c.2502C>A NP_001035961.1:p.Ile834=
NM_001042497.1:c.2484C>A NP_001035962.1:p.Ile828=
NM_005135.2:c.2376C>A , LRG_270t1:c.2376C>A NP_005126.1:p.Ile792=
NM_133647.1:c.2529C>A , LRG_270t2:c.2529C>A NP_598408.1:p.Ile843=
XM_006720793.2:c.2382C>A XP_006720856.1:p.Ile794=
XM_011522267.1:c.2529C>A XP_011520569.1:p.Ile843=
XM_011522268.1:c.2529C>A XP_011520570.1:p.Ile843=
XR_429476.2:n.2535C>A
XR_931960.1:n.2535C>A
XR_931961.1:n.2536C>A
NM_001365088.1:c.2529C>A MANE Select NP_001352017.1:p.Ile843=
XM_006720793.4:c.2382C>A XP_006720856.1:p.Ile794=
XR_931960.3:n.3779C>A
NM_001042494.2:c.2352C>A NP_001035959.1:p.Ile784=
NM_001042495.2:c.2352C>A NP_001035960.1:p.Ile784=
NM_001042496.2:c.2502C>A NP_001035961.1:p.Ile834=
NM_001042497.2:c.2484C>A NP_001035962.1:p.Ile828=
NM_133647.2:c.2529C>A NP_598408.1:p.Ile843=