Canonical Allele Identifier: CA383602708
Gene: SLC6A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.242618G>T , CM000674.2:g.242618G>T GRCh38
NC_000012.11:g.351784G>T , CM000674.1:g.351784G>T GRCh37
NC_000012.10:g.222045G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343164.9:c.474C>A MANE Select ENSP00000339260.4:p.Asn158Lys
ENST00000343164.8:c.474C>A ENSP00000339260.4:p.Asn158Lys
ENST00000445055.6:c.203-4608C>A ENSP00000407104.2:n.203-4608C>A
ENST00000536842.5:n.527C>A
ENST00000539260.1:c.*113C>A ENSP00000437386.1:n.*113C>A
ENST00000542272.5:c.117C>A ENSP00000443466.1:p.Asn39Lys
ENST00000546319.5:c.203-4608C>A ENSP00000444606.1:n.203-4608C>A
NM_001190997.2:c.203-4608C>A NP_001177926.1:n.203-4608C>A
NM_016615.4:c.474C>A NP_057699.2:p.Asn158Lys
XM_005253749.2:c.540C>A XP_005253806.1:p.Asn180Lys
XM_011521012.1:c.117C>A XP_011519314.1:p.Asn39Lys
XM_011521013.1:c.-186C>A XP_011519315.1:n.-186C>A
XM_011521014.1:c.-186C>A XP_011519316.1:n.-186C>A
XM_011521012.2:c.117C>A XP_011519314.1:p.Asn39Lys
XM_017019844.1:c.474C>A XP_016875333.1:p.Asn158Lys
XM_017019846.1:c.474C>A XP_016875335.1:p.Asn158Lys
XM_017019847.1:c.474C>A XP_016875336.1:p.Asn158Lys
XR_001748849.1:n.527C>A
XR_002957372.1:n.527C>A
NM_016615.5:c.474C>A MANE Select NP_057699.2:p.Asn158Lys
NM_001190997.3:c.203-4608C>A NP_001177926.1:n.203-4608C>A