Canonical Allele Identifier: CA6378286

Gene: SLC6A13

Linked Data

• dbSNP Id: rs757442254
• ExAC: 12:351805 G / A
• gnomAD v2: 12-351805-G-A
• gnomAD v3: 12-242639-G-A
• gnomAD v4: 12-242639-G-A
• COSMIC: COSM4495427
• MyVariant Identifiers: chr12:g.351805G>A (hg19) ; chr12:g.242639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242639G>A , CM000674.2:g.242639G>A	GRCh38
NC_000012.11:g.351805G>A , CM000674.1:g.351805G>A	GRCh37
NC_000012.10:g.222066G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.453C>T MANE Select	ENSP00000339260.4:p.Gly151=
ENST00000343164.8:c.453C>T	ENSP00000339260.4:p.Gly151=
ENST00000445055.6:c.203-4629C>T	ENSP00000407104.2:n.203-4629C>T
ENST00000536842.5:n.506C>T
ENST00000539260.1:c.*92C>T	ENSP00000437386.1:n.*92C>T
ENST00000542272.5:c.96C>T	ENSP00000443466.1:p.Gly32=
ENST00000546319.5:c.203-4629C>T	ENSP00000444606.1:n.203-4629C>T
NM_001190997.2:c.203-4629C>T	NP_001177926.1:n.203-4629C>T
NM_016615.4:c.453C>T	NP_057699.2:p.Gly151=
XM_005253749.2:c.519C>T	XP_005253806.1:p.Gly173=
XM_011521012.1:c.96C>T	XP_011519314.1:p.Gly32=
XM_011521013.1:c.-207C>T	XP_011519315.1:n.-207C>T
XM_011521014.1:c.-207C>T	XP_011519316.1:n.-207C>T
XM_011521012.2:c.96C>T	XP_011519314.1:p.Gly32=
XM_017019844.1:c.453C>T	XP_016875333.1:p.Gly151=
XM_017019846.1:c.453C>T	XP_016875335.1:p.Gly151=
XM_017019847.1:c.453C>T	XP_016875336.1:p.Gly151=
XR_001748849.1:n.506C>T
XR_002957372.1:n.506C>T
NM_016615.5:c.453C>T MANE Select	NP_057699.2:p.Gly151=
NM_001190997.3:c.203-4629C>T	NP_001177926.1:n.203-4629C>T