Canonical Allele Identifier: CA379914693
Community Standard Title: NM_004211.5(SLC6A5):c.985+1G>A
Gene: SLC6A5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20607653G>A , CM000673.2:g.20607653G>A GRCh38
NC_000011.9:g.20629199G>A , CM000673.1:g.20629199G>A GRCh37
NC_000011.8:g.20585775G>A NCBI36
NG_013086.1:g.13254G>A
NG_013086.2:g.13254G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004211.5:c.985+1G>A MANE Select NP_004202.4:n.985+1G>A
ENST00000525748.6:c.985+1G>A MANE Select ENSP00000434364.2:n.985+1G>A
NM_001318369.1:c.283+1G>A NP_001305298.1:n.283+1G>A
NM_001318369.2:c.283+1G>A NP_001305298.1:n.283+1G>A
NM_004211.3:c.985+1G>A NP_004202.2:n.985+1G>A
NM_004211.4:c.985+1G>A NP_004202.3:n.985+1G>A
ENST00000298923.11:c.*282+1G>A ENSP00000298923.7:n.*282+1G>A
ENST00000525748.5:c.985+1G>A ENSP00000434364.1:n.985+1G>A
XM_005253225.1:c.283+1G>A XP_005253282.1:n.283+1G>A
XM_011520473.1:c.985+1G>A XP_011518775.1:n.985+1G>A
XM_017018544.2:c.109+515G>A XP_016874033.1:n.109+515G>A
XM_017018545.2:c.-56-7026G>A XP_016874034.1:n.-56-7026G>A
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