Canonical Allele Identifier: CA383602721

Gene: SLC6A13

Linked Data

• MyVariant Identifiers: chr12:g.351787C>A (hg19) ; chr12:g.242621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242621C>A , CM000674.2:g.242621C>A	GRCh38
NC_000012.11:g.351787C>A , CM000674.1:g.351787C>A	GRCh37
NC_000012.10:g.222048C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.471G>T MANE Select	ENSP00000339260.4:p.Trp157Cys
ENST00000343164.8:c.471G>T	ENSP00000339260.4:p.Trp157Cys
ENST00000445055.6:c.203-4611G>T	ENSP00000407104.2:n.203-4611G>T
ENST00000536842.5:n.524G>T
ENST00000539260.1:c.*110G>T	ENSP00000437386.1:n.*110G>T
ENST00000542272.5:c.114G>T	ENSP00000443466.1:p.Trp38Cys
ENST00000546319.5:c.203-4611G>T	ENSP00000444606.1:n.203-4611G>T
NM_001190997.2:c.203-4611G>T	NP_001177926.1:n.203-4611G>T
NM_016615.4:c.471G>T	NP_057699.2:p.Trp157Cys
XM_005253749.2:c.537G>T	XP_005253806.1:p.Trp179Cys
XM_011521012.1:c.114G>T	XP_011519314.1:p.Trp38Cys
XM_011521013.1:c.-189G>T	XP_011519315.1:n.-189G>T
XM_011521014.1:c.-189G>T	XP_011519316.1:n.-189G>T
XM_011521012.2:c.114G>T	XP_011519314.1:p.Trp38Cys
XM_017019844.1:c.471G>T	XP_016875333.1:p.Trp157Cys
XM_017019846.1:c.471G>T	XP_016875335.1:p.Trp157Cys
XM_017019847.1:c.471G>T	XP_016875336.1:p.Trp157Cys
XR_001748849.1:n.524G>T
XR_002957372.1:n.524G>T
NM_016615.5:c.471G>T MANE Select	NP_057699.2:p.Trp157Cys
NM_001190997.3:c.203-4611G>T	NP_001177926.1:n.203-4611G>T