Canonical Allele Identifier: CA1956615649
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20617684C= , CM000673.2:g.20617684C= GRCh38
NC_000011.9:g.20639230C= , CM000673.1:g.20639230C= GRCh37
NC_000011.8:g.20595806C= NCBI36
NG_013086.1:g.23285C=
NG_013086.2:g.23285C=

Transcript Alleles

HGVS Amino-acid change
ENST00000525748.6:c.1128-68C= MANE Select ENSP00000434364.2:n.1128-68C=
ENST00000298923.11:c.*425-68C= ENSP00000298923.7:n.*425-68C=
ENST00000525748.5:c.1128-68C= ENSP00000434364.1:n.1128-68C=
NM_004211.3:c.1128-68C= NP_004202.2:n.1128-68C=
XM_005253225.1:c.426-68C= XP_005253282.1:n.426-68C=
XM_011520473.1:c.1128-68C= XP_011518775.1:n.1128-68C=
NM_001318369.1:c.426-68C= NP_001305298.1:n.426-68C=
NM_004211.4:c.1128-68C= NP_004202.3:n.1128-68C=
XM_017018544.2:c.252-68C= XP_016874033.1:n.252-68C=
XM_017018545.2:c.87-68C= XP_016874034.1:n.87-68C=
NM_001318369.2:c.426-68C= NP_001305298.1:n.426-68C=
NM_004211.5:c.1128-68C= MANE Select NP_004202.4:n.1128-68C=