Canonical Allele Identifier: CA383602695

Gene: SLC6A13

Linked Data

• MyVariant Identifiers: chr12:g.351782G>A (hg19) ; chr12:g.242616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242616G>A , CM000674.2:g.242616G>A	GRCh38
NC_000012.11:g.351782G>A , CM000674.1:g.351782G>A	GRCh37
NC_000012.10:g.222043G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.476C>T MANE Select	ENSP00000339260.4:p.Thr159Ile
ENST00000343164.8:c.476C>T	ENSP00000339260.4:p.Thr159Ile
ENST00000445055.6:c.203-4606C>T	ENSP00000407104.2:n.203-4606C>T
ENST00000536842.5:n.529C>T
ENST00000539260.1:c.*115C>T	ENSP00000437386.1:n.*115C>T
ENST00000542272.5:c.119C>T	ENSP00000443466.1:p.Thr40Ile
ENST00000546319.5:c.203-4606C>T	ENSP00000444606.1:n.203-4606C>T
NM_001190997.2:c.203-4606C>T	NP_001177926.1:n.203-4606C>T
NM_016615.4:c.476C>T	NP_057699.2:p.Thr159Ile
XM_005253749.2:c.542C>T	XP_005253806.1:p.Thr181Ile
XM_011521012.1:c.119C>T	XP_011519314.1:p.Thr40Ile
XM_011521013.1:c.-184C>T	XP_011519315.1:n.-184C>T
XM_011521014.1:c.-184C>T	XP_011519316.1:n.-184C>T
XM_011521012.2:c.119C>T	XP_011519314.1:p.Thr40Ile
XM_017019844.1:c.476C>T	XP_016875333.1:p.Thr159Ile
XM_017019846.1:c.476C>T	XP_016875335.1:p.Thr159Ile
XM_017019847.1:c.476C>T	XP_016875336.1:p.Thr159Ile
XR_001748849.1:n.529C>T
XR_002957372.1:n.529C>T
NM_016615.5:c.476C>T MANE Select	NP_057699.2:p.Thr159Ile
NM_001190997.3:c.203-4606C>T	NP_001177926.1:n.203-4606C>T