Canonical Allele Identifier: CA473404209
Gene: SLC6A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.20649528G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20627982G>T , CM000673.2:g.20627982G>T GRCh38
NC_000011.9:g.20649528G>T , CM000673.1:g.20649528G>T GRCh37
NC_000011.8:g.20606104G>T NCBI36
NG_013086.1:g.33583G>T
NG_013086.2:g.33583G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1398G>T MANE Select ENSP00000434364.2:p.Val466=
ENST00000298923.11:c.*695G>T ENSP00000298923.7:n.*695G>T
ENST00000525748.5:c.1398G>T ENSP00000434364.1:p.Val466=
NM_004211.3:c.1398G>T NP_004202.2:p.Val466=
XM_005253225.1:c.696G>T XP_005253282.1:p.Val232=
XM_011520473.1:c.1398G>T XP_011518775.1:p.Val466=
NM_001318369.1:c.696G>T NP_001305298.1:p.Val232=
NM_004211.4:c.1398G>T NP_004202.3:p.Val466=
XM_017018544.2:c.522G>T XP_016874033.1:p.Val174=
XM_017018545.2:c.357G>T XP_016874034.1:p.Val119=
NM_001318369.2:c.696G>T NP_001305298.1:p.Val232=
NM_004211.5:c.1398G>T MANE Select NP_004202.4:p.Val466=