Canonical Allele Identifier: CA379913092
Community Standard Title: NM_004211.5(SLC6A5):c.679+1G>A
Gene: SLC6A5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20604425G>A , CM000673.2:g.20604425G>A GRCh38
NC_000011.9:g.20625971G>A , CM000673.1:g.20625971G>A GRCh37
NC_000011.8:g.20582547G>A NCBI36
NG_013086.1:g.10026G>A
NG_013086.2:g.10026G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004211.5:c.679+1G>A MANE Select NP_004202.4:n.679+1G>A
ENST00000525748.6:c.679+1G>A MANE Select ENSP00000434364.2:n.679+1G>A
NM_001318369.1:c.-23-2582G>A NP_001305298.1:n.-23-2582G>A
NM_001318369.2:c.-23-2582G>A NP_001305298.1:n.-23-2582G>A
NM_004211.3:c.679+1G>A NP_004202.2:n.679+1G>A
NM_004211.4:c.679+1G>A NP_004202.3:n.679+1G>A
ENST00000298923.11:c.541-2582G>A ENSP00000298923.7:n.541-2582G>A
ENST00000525748.5:c.679+1G>A ENSP00000434364.1:n.679+1G>A
XM_005253225.1:c.-23-2582G>A XP_005253282.1:n.-23-2582G>A
XM_011520473.1:c.679+1G>A XP_011518775.1:n.679+1G>A
XM_017018545.2:c.-57+4750G>A XP_016874034.1:n.-57+4750G>A
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