Canonical Allele Identifier: CA379910268
Community Standard Title: NM_004211.5(SLC6A5):c.3+1G>T
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20599676G>T , CM000673.2:g.20599676G>T GRCh38
NC_000011.9:g.20621222G>T , CM000673.1:g.20621222G>T GRCh37
NC_000011.8:g.20577798G>T NCBI36
NG_013086.1:g.5277G>T
NG_013086.2:g.5277G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004211.5:c.3+1G>T MANE Select NP_004202.4:n.3+1G>T
ENST00000525748.6:c.3+1G>T MANE Select ENSP00000434364.2:n.3+1G>T
NM_001318369.1:c.-561+1G>T NP_001305298.1:n.-561+1G>T
NM_001318369.2:c.-561+1G>T NP_001305298.1:n.-561+1G>T
NM_004211.3:c.3+1G>T NP_004202.2:n.3+1G>T
NM_004211.4:c.3+1G>T NP_004202.3:n.3+1G>T
ENST00000298923.11:c.3+1G>T ENSP00000298923.7:n.3+1G>T
ENST00000525748.5:c.3+1G>T ENSP00000434364.1:n.3+1G>T
XM_005253225.1:c.-561+1G>T XP_005253282.1:n.-561+1G>T
XM_011520473.1:c.3+1G>T XP_011518775.1:n.3+1G>T
XM_017018545.2:c.-57+1G>T XP_016874034.1:n.-57+1G>T