Canonical Allele Identifier: CA473404232
Gene: SLC6A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.20649570T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628024T>G , CM000673.2:g.20628024T>G GRCh38
NC_000011.9:g.20649570T>G , CM000673.1:g.20649570T>G GRCh37
NC_000011.8:g.20606146T>G NCBI36
NG_013086.1:g.33625T>G
NG_013086.2:g.33625T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1440T>G MANE Select ENSP00000434364.2:p.Ala480=
ENST00000298923.11:c.*737T>G ENSP00000298923.7:n.*737T>G
ENST00000525748.5:c.1440T>G ENSP00000434364.1:p.Ala480=
NM_004211.3:c.1440T>G NP_004202.2:p.Ala480=
XM_005253225.1:c.738T>G XP_005253282.1:p.Ala246=
XM_011520473.1:c.1440T>G XP_011518775.1:p.Ala480=
NM_001318369.1:c.738T>G NP_001305298.1:p.Ala246=
NM_004211.4:c.1440T>G NP_004202.3:p.Ala480=
XM_017018544.2:c.564T>G XP_016874033.1:p.Ala188=
XM_017018545.2:c.399T>G XP_016874034.1:p.Ala133=
NM_001318369.2:c.738T>G NP_001305298.1:p.Ala246=
NM_004211.5:c.1440T>G MANE Select NP_004202.4:p.Ala480=