Canonical Allele Identifier: CA200217
Gene: SLC6A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 192368
ClinVar RCV Id: RCV000172994
dbSNP Id: rs794726859

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.11017342G>A , CM000665.2:g.11017342G>A GRCh38
NC_000003.11:g.11059028G>A , CM000665.1:g.11059028G>A GRCh37
NC_000003.10:g.11034028G>A NCBI36
NG_053003.1:g.29614G>A

Transcript Alleles

HGVS Amino-acid change
NM_003042.3:c.131G>A VV NP_003033.3:p.Arg44Gln
NR_046647.1:n.105+1778C>T
XM_005265410.3:c.131G>A XP_005265467.1:p.Arg44Gln
XM_005265411.3:c.131G>A XP_005265468.1:p.Arg44Gln
XM_006713306.2:c.131G>A XP_006713369.1:p.Arg44Gln
XM_011534025.1:c.131G>A XP_011532327.1:p.Arg44Gln
XM_011534026.1:c.131G>A XP_011532328.1:p.Arg44Gln
XM_011534027.1:c.131G>A XP_011532329.1:p.Arg44Gln
XM_011534028.1:c.131G>A XP_011532330.1:p.Arg44Gln
NM_001348250.1:c.131G>A VV NP_001335179.1:p.Arg44Gln
NM_001348251.1:c.-123+83G>A VV NP_001335180.1:p.=
NM_001348252.1:c.-165+83G>A VV NP_001335181.1:p.=
NM_001348253.1:c.-165+83G>A VV NP_001335182.1:p.=
XM_005265410.5:c.131G>A XP_005265467.1:p.Arg44Gln
XM_005265411.5:c.131G>A XP_005265468.1:p.Arg44Gln
XM_011534025.3:c.131G>A XP_011532327.1:p.Arg44Gln
XM_011534027.3:c.131G>A XP_011532329.1:p.Arg44Gln
XM_017007071.2:c.131G>A XP_016862560.1:p.Arg44Gln
XM_017007072.2:c.131G>A XP_016862561.1:p.Arg44Gln
NM_003042.4:c.131G>A VV MANE Preferred NP_003033.3:p.Arg44Gln
ENST00000287766.8:c.131G>A ENSP00000287766.4:p.Arg44Gln
ENST00000460480.1:n.144+83G>A
ENST00000462473.1:n.459+83G>A