Canonical Allele Identifier: CA383602811

Gene: SLC6A13

Linked Data

• dbSNP Id: rs375633418
• gnomAD v3: 12-242638-C-T
• gnomAD v4: 12-242638-C-T
• MyVariant Identifiers: chr12:g.351804C>T (hg19) ; chr12:g.242638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242638C>T , CM000674.2:g.242638C>T	GRCh38
NC_000012.11:g.351804C>T , CM000674.1:g.351804C>T	GRCh37
NC_000012.10:g.222065C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.454G>A MANE Select	ENSP00000339260.4:p.Gly152Ser
ENST00000343164.8:c.454G>A	ENSP00000339260.4:p.Gly152Ser
ENST00000445055.6:c.203-4628G>A	ENSP00000407104.2:n.203-4628G>A
ENST00000536842.5:n.507G>A
ENST00000539260.1:c.*93G>A	ENSP00000437386.1:n.*93G>A
ENST00000542272.5:c.97G>A	ENSP00000443466.1:p.Gly33Ser
ENST00000546319.5:c.203-4628G>A	ENSP00000444606.1:n.203-4628G>A
NM_001190997.2:c.203-4628G>A	NP_001177926.1:n.203-4628G>A
NM_016615.4:c.454G>A	NP_057699.2:p.Gly152Ser
XM_005253749.2:c.520G>A	XP_005253806.1:p.Gly174Ser
XM_011521012.1:c.97G>A	XP_011519314.1:p.Gly33Ser
XM_011521013.1:c.-206G>A	XP_011519315.1:n.-206G>A
XM_011521014.1:c.-206G>A	XP_011519316.1:n.-206G>A
XM_011521012.2:c.97G>A	XP_011519314.1:p.Gly33Ser
XM_017019844.1:c.454G>A	XP_016875333.1:p.Gly152Ser
XM_017019846.1:c.454G>A	XP_016875335.1:p.Gly152Ser
XM_017019847.1:c.454G>A	XP_016875336.1:p.Gly152Ser
XR_001748849.1:n.507G>A
XR_002957372.1:n.507G>A
NM_016615.5:c.454G>A MANE Select	NP_057699.2:p.Gly152Ser
NM_001190997.3:c.203-4628G>A	NP_001177926.1:n.203-4628G>A