Canonical Allele Identifier: CA5921176
Community Standard Title: NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp)
Gene: SLC6A5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20607010C>A , CM000673.2:g.20607010C>A GRCh38
NC_000011.9:g.20628556C>A , CM000673.1:g.20628556C>A GRCh37
NC_000011.8:g.20585132C>A NCBI36
NG_013086.1:g.12611C>A
NG_013086.2:g.12611C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004211.5:c.683C>A MANE Select NP_004202.4:p.Ala228Asp
ENST00000525748.6:c.683C>A MANE Select ENSP00000434364.2:p.Ala228Asp
NM_001318369.1:c.-20C>A NP_001305298.1:n.-20C>A
NM_001318369.2:c.-20C>A NP_001305298.1:n.-20C>A
NM_004211.3:c.683C>A NP_004202.2:p.Ala228Asp
NM_004211.4:c.683C>A NP_004202.3:p.Ala228Asp
ENST00000298923.11:c.544C>A ENSP00000298923.7:p.Leu182Ile
ENST00000525748.5:c.683C>A ENSP00000434364.1:p.Ala228Asp
XM_005253225.1:c.-20C>A XP_005253282.1:n.-20C>A
XM_011520473.1:c.683C>A XP_011518775.1:p.Ala228Asp
XM_017018544.2:c.-20C>A XP_016874033.1:n.-20C>A
XM_017018545.2:c.-57+7335C>A XP_016874034.1:n.-57+7335C>A
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