Canonical Allele Identifier: CA5920986
Community Standard Title: NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val)
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20601184C>T , CM000673.2:g.20601184C>T GRCh38
NC_000011.9:g.20622730C>T , CM000673.1:g.20622730C>T GRCh37
NC_000011.8:g.20579306C>T NCBI36
NG_013086.1:g.6785C>T
NG_013086.2:g.6785C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004211.5:c.59C>T MANE Select NP_004202.4:p.Ala20Val
ENST00000525748.6:c.59C>T MANE Select ENSP00000434364.2:p.Ala20Val
NM_001318369.1:c.-505C>T NP_001305298.1:n.-505C>T
NM_001318369.2:c.-505C>T NP_001305298.1:n.-505C>T
NM_004211.3:c.59C>T NP_004202.2:p.Ala20Val
NM_004211.4:c.59C>T NP_004202.3:p.Ala20Val
ENST00000298923.11:c.59C>T ENSP00000298923.7:p.Ala20Val
ENST00000525748.5:c.59C>T ENSP00000434364.1:p.Ala20Val
XM_005253225.1:c.-505C>T XP_005253282.1:n.-505C>T
XM_011520473.1:c.59C>T XP_011518775.1:p.Ala20Val
XM_017018545.2:c.-57+1509C>T XP_016874034.1:n.-57+1509C>T