Canonical Allele Identifier: CA1956624665
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20638452C= , CM000673.2:g.20638452C= GRCh38
NC_000011.9:g.20659998C= , CM000673.1:g.20659998C= GRCh37
NC_000011.8:g.20616574C= NCBI36
NG_013086.1:g.44053C=
NG_013086.2:g.44053C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1870-7C= MANE Select ENSP00000434364.2:n.1870-7C=
ENST00000298923.11:c.*1167-7C= ENSP00000298923.7:n.*1167-7C=
ENST00000525748.5:c.1870-7C= ENSP00000434364.1:n.1870-7C=
ENST00000528440.1:n.401-7C=
NM_004211.3:c.1870-7C= NP_004202.2:n.1870-7C=
XM_005253225.1:c.1168-7C= XP_005253282.1:n.1168-7C=
XM_011520473.1:c.1870-7C= XP_011518775.1:n.1870-7C=
NM_001318369.1:c.1168-7C= NP_001305298.1:n.1168-7C=
NM_004211.4:c.1870-7C= NP_004202.3:n.1870-7C=
XM_017018544.2:c.994-7C= XP_016874033.1:n.994-7C=
XM_017018545.2:c.829-7C= XP_016874034.1:n.829-7C=
NM_001318369.2:c.1168-7C= NP_001305298.1:n.1168-7C=
NM_004211.5:c.1870-7C= MANE Select NP_004202.4:n.1870-7C=