Canonical Allele Identifier: CA383602769
Gene: SLC6A13 HGNC NCBI

Linked Data

dbSNP Id: rs1352966529
gnomAD v2: 12-351795-G-C
gnomAD v3: 12-242629-G-C
gnomAD v4: 12-242629-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.242629G>C , CM000674.2:g.242629G>C GRCh38
NC_000012.11:g.351795G>C , CM000674.1:g.351795G>C GRCh37
NC_000012.10:g.222056G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343164.9:c.463C>G MANE Select ENSP00000339260.4:p.His155Asp
ENST00000343164.8:c.463C>G ENSP00000339260.4:p.His155Asp
ENST00000445055.6:c.203-4619C>G ENSP00000407104.2:n.203-4619C>G
ENST00000536842.5:n.516C>G
ENST00000539260.1:c.*102C>G ENSP00000437386.1:n.*102C>G
ENST00000542272.5:c.106C>G ENSP00000443466.1:p.His36Asp
ENST00000546319.5:c.203-4619C>G ENSP00000444606.1:n.203-4619C>G
NM_001190997.2:c.203-4619C>G NP_001177926.1:n.203-4619C>G
NM_016615.4:c.463C>G NP_057699.2:p.His155Asp
XM_005253749.2:c.529C>G XP_005253806.1:p.His177Asp
XM_011521012.1:c.106C>G XP_011519314.1:p.His36Asp
XM_011521013.1:c.-197C>G XP_011519315.1:n.-197C>G
XM_011521014.1:c.-197C>G XP_011519316.1:n.-197C>G
XM_011521012.2:c.106C>G XP_011519314.1:p.His36Asp
XM_017019844.1:c.463C>G XP_016875333.1:p.His155Asp
XM_017019846.1:c.463C>G XP_016875335.1:p.His155Asp
XM_017019847.1:c.463C>G XP_016875336.1:p.His155Asp
XR_001748849.1:n.516C>G
XR_002957372.1:n.516C>G
NM_016615.5:c.463C>G MANE Select NP_057699.2:p.His155Asp
NM_001190997.3:c.203-4619C>G NP_001177926.1:n.203-4619C>G