Canonical Allele Identifier: CA6377644

Gene: SLC6A12

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684302.1:c.28T>C MANE Select	ENSP00000508194.1:p.Cys10Arg
ENST00000359674.8:c.28T>C	ENSP00000352702.4:p.Cys10Arg
ENST00000397296.6:c.28T>C	ENSP00000380464.2:p.Cys10Arg
ENST00000424061.6:c.28T>C	ENSP00000399136.2:p.Cys10Arg
ENST00000535347.5:c.28T>C	ENSP00000446082.1:p.Cys10Arg
ENST00000536116.5:n.205T>C
ENST00000536824.5:c.28T>C	ENSP00000444268.1:p.Cys10Arg
ENST00000537793.1:c.28T>C	ENSP00000439351.1:p.Cys10Arg
ENST00000537826.1:n.304T>C
NM_001122847.2:c.28T>C	NP_001116319.1:p.Cys10Arg
NM_001122848.2:c.28T>C	NP_001116320.1:p.Cys10Arg
NM_001206931.1:c.28T>C	NP_001193860.1:p.Cys10Arg
NM_003044.4:c.28T>C	NP_003035.3:p.Cys10Arg
XM_005253746.1:c.28T>C	XP_005253803.1:p.Cys10Arg
XM_005253747.3:c.28T>C	XP_005253804.1:p.Cys10Arg
XM_005253748.3:c.28T>C	XP_005253805.1:p.Cys10Arg
XM_006719005.2:c.28T>C	XP_006719068.1:p.Cys10Arg
XM_011521010.1:c.28T>C	XP_011519312.1:p.Cys10Arg
XM_011521011.1:c.28T>C	XP_011519313.1:p.Cys10Arg
XM_005253747.4:c.28T>C	XP_005253804.1:p.Cys10Arg
XM_005253748.4:c.28T>C	XP_005253805.1:p.Cys10Arg
XM_006719005.3:c.28T>C	XP_006719068.1:p.Cys10Arg
NM_001122847.3:c.28T>C	NP_001116319.1:p.Cys10Arg
NM_001122848.3:c.28T>C MANE Select	NP_001116320.1:p.Cys10Arg
NM_001206931.2:c.28T>C	NP_001193860.1:p.Cys10Arg
NM_003044.5:c.28T>C	NP_003035.3:p.Cys10Arg