Canonical Allele Identifier: CA379911931

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20601435-C-G
• MyVariant Identifiers: chr11:g.20622981C>G (hg19) ; chr11:g.20601435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20601435C>G , CM000673.2:g.20601435C>G	GRCh38
NC_000011.9:g.20622981C>G , CM000673.1:g.20622981C>G	GRCh37
NC_000011.8:g.20579557C>G	NCBI36
NG_013086.1:g.7036C>G
NG_013086.2:g.7036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.310C>G MANE Select	ENSP00000434364.2:p.Gln104Glu
ENST00000298923.11:c.310C>G	ENSP00000298923.7:p.Gln104Glu
ENST00000525748.5:c.310C>G	ENSP00000434364.1:p.Gln104Glu
NM_004211.3:c.310C>G	NP_004202.2:p.Gln104Glu
XM_005253225.1:c.-254C>G	XP_005253282.1:n.-254C>G
XM_011520473.1:c.310C>G	XP_011518775.1:p.Gln104Glu
NM_001318369.1:c.-254C>G	NP_001305298.1:n.-254C>G
NM_004211.4:c.310C>G	NP_004202.3:p.Gln104Glu
XM_017018545.2:c.-57+1760C>G	XP_016874034.1:n.-57+1760C>G
NM_001318369.2:c.-254C>G	NP_001305298.1:n.-254C>G
NM_004211.5:c.310C>G MANE Select	NP_004202.4:p.Gln104Glu