Canonical Allele Identifier: CA383602691

Gene: SLC6A13

Linked Data

• MyVariant Identifiers: chr12:g.351780C>T (hg19) ; chr12:g.242614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242614C>T , CM000674.2:g.242614C>T	GRCh38
NC_000012.11:g.351780C>T , CM000674.1:g.351780C>T	GRCh37
NC_000012.10:g.222041C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.478G>A MANE Select	ENSP00000339260.4:p.Glu160Lys
ENST00000343164.8:c.478G>A	ENSP00000339260.4:p.Glu160Lys
ENST00000445055.6:c.203-4604G>A	ENSP00000407104.2:n.203-4604G>A
ENST00000536842.5:n.531G>A
ENST00000539260.1:c.*117G>A	ENSP00000437386.1:n.*117G>A
ENST00000542272.5:c.121G>A	ENSP00000443466.1:p.Gly41Ser
ENST00000546319.5:c.203-4604G>A	ENSP00000444606.1:n.203-4604G>A
NM_001190997.2:c.203-4604G>A	NP_001177926.1:n.203-4604G>A
NM_016615.4:c.478G>A	NP_057699.2:p.Glu160Lys
XM_005253749.2:c.544G>A	XP_005253806.1:p.Glu182Lys
XM_011521012.1:c.121G>A	XP_011519314.1:p.Glu41Lys
XM_011521013.1:c.-182G>A	XP_011519315.1:n.-182G>A
XM_011521014.1:c.-182G>A	XP_011519316.1:n.-182G>A
XM_011521012.2:c.121G>A	XP_011519314.1:p.Glu41Lys
XM_017019844.1:c.478G>A	XP_016875333.1:p.Glu160Lys
XM_017019846.1:c.478G>A	XP_016875335.1:p.Glu160Lys
XM_017019847.1:c.478G>A	XP_016875336.1:p.Glu160Lys
XR_001748849.1:n.531G>A
XR_002957372.1:n.531G>A
NM_016615.5:c.478G>A MANE Select	NP_057699.2:p.Glu160Lys
NM_001190997.3:c.203-4604G>A	NP_001177926.1:n.203-4604G>A