Canonical Allele Identifier: CA473404237
Gene: SLC6A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.20649579A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628033A>G , CM000673.2:g.20628033A>G GRCh38
NC_000011.9:g.20649579A>G , CM000673.1:g.20649579A>G GRCh37
NC_000011.8:g.20606155A>G NCBI36
NG_013086.1:g.33634A>G
NG_013086.2:g.33634A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1449A>G MANE Select ENSP00000434364.2:p.Gly483=
ENST00000298923.11:c.*746A>G ENSP00000298923.7:n.*746A>G
ENST00000525748.5:c.1449A>G ENSP00000434364.1:p.Gly483=
NM_004211.3:c.1449A>G NP_004202.2:p.Gly483=
XM_005253225.1:c.747A>G XP_005253282.1:p.Gly249=
XM_011520473.1:c.1449A>G XP_011518775.1:p.Gly483=
NM_001318369.1:c.747A>G NP_001305298.1:p.Gly249=
NM_004211.4:c.1449A>G NP_004202.3:p.Gly483=
XM_017018544.2:c.573A>G XP_016874033.1:p.Gly191=
XM_017018545.2:c.408A>G XP_016874034.1:p.Gly136=
NM_001318369.2:c.747A>G NP_001305298.1:p.Gly249=
NM_004211.5:c.1449A>G MANE Select NP_004202.4:p.Gly483=