Canonical Allele Identifier: CA383618268
Gene: SLC6A12 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.209959A>C , CM000674.2:g.209959A>C GRCh38
NC_000012.11:g.319125A>C , CM000674.1:g.319125A>C GRCh37
NC_000012.10:g.189386A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000684302.1:c.28T>G MANE Select ENSP00000508194.1:p.Cys10Gly
ENST00000359674.8:c.28T>G ENSP00000352702.4:p.Cys10Gly
ENST00000397296.6:c.28T>G ENSP00000380464.2:p.Cys10Gly
ENST00000424061.6:c.28T>G ENSP00000399136.2:p.Cys10Gly
ENST00000535347.5:c.28T>G ENSP00000446082.1:p.Cys10Gly
ENST00000536116.5:n.205T>G
ENST00000536824.5:c.28T>G ENSP00000444268.1:p.Cys10Gly
ENST00000537793.1:c.28T>G ENSP00000439351.1:p.Cys10Gly
ENST00000537826.1:n.304T>G
NM_001122847.2:c.28T>G NP_001116319.1:p.Cys10Gly
NM_001122848.2:c.28T>G NP_001116320.1:p.Cys10Gly
NM_001206931.1:c.28T>G NP_001193860.1:p.Cys10Gly
NM_003044.4:c.28T>G NP_003035.3:p.Cys10Gly
XM_005253746.1:c.28T>G XP_005253803.1:p.Cys10Gly
XM_005253747.3:c.28T>G XP_005253804.1:p.Cys10Gly
XM_005253748.3:c.28T>G XP_005253805.1:p.Cys10Gly
XM_006719005.2:c.28T>G XP_006719068.1:p.Cys10Gly
XM_011521010.1:c.28T>G XP_011519312.1:p.Cys10Gly
XM_011521011.1:c.28T>G XP_011519313.1:p.Cys10Gly
XM_005253747.4:c.28T>G XP_005253804.1:p.Cys10Gly
XM_005253748.4:c.28T>G XP_005253805.1:p.Cys10Gly
XM_006719005.3:c.28T>G XP_006719068.1:p.Cys10Gly
NM_001122847.3:c.28T>G NP_001116319.1:p.Cys10Gly
NM_001122848.3:c.28T>G MANE Select NP_001116320.1:p.Cys10Gly
NM_001206931.2:c.28T>G NP_001193860.1:p.Cys10Gly
NM_003044.5:c.28T>G NP_003035.3:p.Cys10Gly