Canonical Allele Identifier: CA1956624676
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20638478A= , CM000673.2:g.20638478A= GRCh38
NC_000011.9:g.20660024A= , CM000673.1:g.20660024A= GRCh37
NC_000011.8:g.20616600A= NCBI36
NG_013086.1:g.44079A=
NG_013086.2:g.44079A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1889A= MANE Select ENSP00000434364.2:p.Gln630=
ENST00000298923.11:c.*1186A= ENSP00000298923.7:n.*1186A=
ENST00000525748.5:c.1889A= ENSP00000434364.1:p.Gln630=
ENST00000528440.1:n.420A=
NM_004211.3:c.1889A= NP_004202.2:p.Gln630=
XM_005253225.1:c.1187A= XP_005253282.1:p.Gln396=
XM_011520473.1:c.1889A= XP_011518775.1:p.Gln630=
NM_001318369.1:c.1187A= NP_001305298.1:p.Gln396=
NM_004211.4:c.1889A= NP_004202.3:p.Gln630=
XM_017018544.2:c.1013A= XP_016874033.1:p.Gln338=
XM_017018545.2:c.848A= XP_016874034.1:p.Gln283=
NM_001318369.2:c.1187A= NP_001305298.1:p.Gln396=
NM_004211.5:c.1889A= MANE Select NP_004202.4:p.Gln630=