Canonical Allele Identifier: CA340402
Gene: SLC12A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 5327
ClinVar RCV Id: RCV000005653 RCV001045904
dbSNP Id: rs121908428
gnomAD v4: 15-34243993-G-A
MyVariant Identifiers: chr15:g.34536194G>A (hg19) chr15:g.34243993G>A (hg38)
PubMed: PMID:12368912 PMID:20301546
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000354181.8:c.2023C>T MANE Select ENSP00000346112.3:p.Arg675Ter
ENST00000675289.1:n.2805C>T
ENST00000676379.1:c.2023C>T ENSP00000502539.1:p.Arg675Ter
ENST00000290209.9:c.1870C>T ENSP00000290209.5:p.Arg624Ter
ENST00000354181.7:c.2023C>T ENSP00000346112.3:p.Arg675Ter
ENST00000397702.6:c.1846C>T ENSP00000380814.2:p.Arg616Ter
ENST00000397707.6:c.1978C>T ENSP00000380819.2:p.Arg660Ter
ENST00000458406.6:c.1846C>T ENSP00000387725.2:p.Arg616Ter
ENST00000558589.5:c.1996C>T ENSP00000452776.1:p.Arg666Ter
ENST00000558667.5:c.2023C>T ENSP00000453473.1:p.Arg675Ter
ENST00000559523.5:c.1846C>T ENSP00000452904.1:p.Arg616Ter
ENST00000559664.5:c.2023C>T ENSP00000453702.1:p.Arg675Ter
ENST00000560023.1:n.136C>T
ENST00000560164.5:c.1459C>T ENSP00000452705.1:p.Arg487Ter
ENST00000560611.5:c.2023C>T ENSP00000454168.1:p.Arg675Ter
ENST00000561080.5:c.2023C>T ENSP00000454069.1:p.Arg675Ter
NM_001042494.1:c.1846C>T NP_001035959.1:p.Arg616Ter
NM_001042495.1:c.1846C>T NP_001035960.1:p.Arg616Ter
NM_001042496.1:c.1996C>T NP_001035961.1:p.Arg666Ter
NM_001042497.1:c.1978C>T NP_001035962.1:p.Arg660Ter
NM_005135.2:c.1870C>T , LRG_270t1:c.1870C>T NP_005126.1:p.Arg624Ter
NM_133647.1:c.2023C>T , LRG_270t2:c.2023C>T NP_598408.1:p.Arg675Ter
XM_006720793.2:c.1876C>T XP_006720856.1:p.Arg626Ter
XM_011522267.1:c.2023C>T XP_011520569.1:p.Arg675Ter
XM_011522268.1:c.2023C>T XP_011520570.1:p.Arg675Ter
XM_011522269.1:c.2023C>T XP_011520571.1:p.Arg675Ter
XR_429476.2:n.2029C>T
XR_931960.1:n.2029C>T
XR_931961.1:n.2030C>T
NM_001365088.1:c.2023C>T MANE Select NP_001352017.1:p.Arg675Ter
XM_006720793.4:c.1876C>T XP_006720856.1:p.Arg626Ter
XM_011522269.3:c.2023C>T XP_011520571.1:p.Arg675Ter
XR_931960.3:n.3273C>T
NM_001042494.2:c.1846C>T NP_001035959.1:p.Arg616Ter
NM_001042495.2:c.1846C>T NP_001035960.1:p.Arg616Ter
NM_001042496.2:c.1996C>T NP_001035961.1:p.Arg666Ter
NM_001042497.2:c.1978C>T NP_001035962.1:p.Arg660Ter
NM_133647.2:c.2023C>T NP_598408.1:p.Arg675Ter
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