Canonical Allele Identifier: CA473404268
Gene: SLC6A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.20649609A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628063A>G , CM000673.2:g.20628063A>G GRCh38
NC_000011.9:g.20649609A>G , CM000673.1:g.20649609A>G GRCh37
NC_000011.8:g.20606185A>G NCBI36
NG_013086.1:g.33664A>G
NG_013086.2:g.33664A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525748.6:c.1479A>G MANE Select ENSP00000434364.2:p.Lys493=
ENST00000298923.11:c.*776A>G ENSP00000298923.7:n.*776A>G
ENST00000525748.5:c.1479A>G ENSP00000434364.1:p.Lys493=
NM_004211.3:c.1479A>G NP_004202.2:p.Lys493=
XM_005253225.1:c.777A>G XP_005253282.1:p.Lys259=
XM_011520473.1:c.1479A>G XP_011518775.1:p.Lys493=
NM_001318369.1:c.777A>G NP_001305298.1:p.Lys259=
NM_004211.4:c.1479A>G NP_004202.3:p.Lys493=
XM_017018544.2:c.603A>G XP_016874033.1:p.Lys201=
XM_017018545.2:c.438A>G XP_016874034.1:p.Lys146=
NM_001318369.2:c.777A>G NP_001305298.1:p.Lys259=
NM_004211.5:c.1479A>G MANE Select NP_004202.4:p.Lys493=