Canonical Allele Identifier: CA2612828689
Community Standard Title: NM_004211.5(SLC6A5):c.680-71C>G
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20606936C>G , CM000673.2:g.20606936C>G GRCh38
NC_000011.9:g.20628482C>G , CM000673.1:g.20628482C>G GRCh37
NC_000011.8:g.20585058C>G NCBI36
NG_013086.1:g.12537C>G
NG_013086.2:g.12537C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004211.5:c.680-71C>G MANE Select NP_004202.4:n.680-71C>G
ENST00000525748.6:c.680-71C>G MANE Select ENSP00000434364.2:n.680-71C>G
NM_001318369.1:c.-23-71C>G NP_001305298.1:n.-23-71C>G
NM_001318369.2:c.-23-71C>G NP_001305298.1:n.-23-71C>G
NM_004211.3:c.680-71C>G NP_004202.2:n.680-71C>G
NM_004211.4:c.680-71C>G NP_004202.3:n.680-71C>G
ENST00000298923.11:c.541-71C>G ENSP00000298923.7:n.541-71C>G
ENST00000525748.5:c.680-71C>G ENSP00000434364.1:n.680-71C>G
XM_005253225.1:c.-23-71C>G XP_005253282.1:n.-23-71C>G
XM_011520473.1:c.680-71C>G XP_011518775.1:n.680-71C>G
XM_017018545.2:c.-57+7261C>G XP_016874034.1:n.-57+7261C>G