Canonical Allele Identifier: CA231381559
Gene: SLC6A13 HGNC NCBI

Linked Data

dbSNP Id: rs375633418
gnomAD v2: 12-351804-C-A
gnomAD v3: 12-242638-C-A
gnomAD v4: 12-242638-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000343164.9:c.454G>T MANE Select ENSP00000339260.4:p.Gly152Cys
ENST00000343164.8:c.454G>T ENSP00000339260.4:p.Gly152Cys
ENST00000445055.6:c.203-4628G>T ENSP00000407104.2:n.203-4628G>T
ENST00000536842.5:n.507G>T
ENST00000539260.1:c.*93G>T ENSP00000437386.1:n.*93G>T
ENST00000542272.5:c.97G>T ENSP00000443466.1:p.Gly33Cys
ENST00000546319.5:c.203-4628G>T ENSP00000444606.1:n.203-4628G>T
NM_001190997.2:c.203-4628G>T NP_001177926.1:n.203-4628G>T
NM_016615.4:c.454G>T NP_057699.2:p.Gly152Cys
XM_005253749.2:c.520G>T XP_005253806.1:p.Gly174Cys
XM_011521012.1:c.97G>T XP_011519314.1:p.Gly33Cys
XM_011521013.1:c.-206G>T XP_011519315.1:n.-206G>T
XM_011521014.1:c.-206G>T XP_011519316.1:n.-206G>T
XM_011521012.2:c.97G>T XP_011519314.1:p.Gly33Cys
XM_017019844.1:c.454G>T XP_016875333.1:p.Gly152Cys
XM_017019846.1:c.454G>T XP_016875335.1:p.Gly152Cys
XM_017019847.1:c.454G>T XP_016875336.1:p.Gly152Cys
XR_001748849.1:n.507G>T
XR_002957372.1:n.507G>T
NM_016615.5:c.454G>T MANE Select NP_057699.2:p.Gly152Cys
NM_001190997.3:c.203-4628G>T NP_001177926.1:n.203-4628G>T