Canonical Allele Identifier: CA379917210

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20628003-G-T
• MyVariant Identifiers: chr11:g.20649549G>T (hg19) ; chr11:g.20628003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628003G>T , CM000673.2:g.20628003G>T	GRCh38
NC_000011.9:g.20649549G>T , CM000673.1:g.20649549G>T	GRCh37
NC_000011.8:g.20606125G>T	NCBI36
NG_013086.1:g.33604G>T
NG_013086.2:g.33604G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1419G>T MANE Select	ENSP00000434364.2:p.Gln473His
ENST00000298923.11:c.*716G>T	ENSP00000298923.7:n.*716G>T
ENST00000525748.5:c.1419G>T	ENSP00000434364.1:p.Gln473His
NM_004211.3:c.1419G>T	NP_004202.2:p.Gln473His
XM_005253225.1:c.717G>T	XP_005253282.1:p.Gln239His
XM_011520473.1:c.1419G>T	XP_011518775.1:p.Gln473His
NM_001318369.1:c.717G>T	NP_001305298.1:p.Gln239His
NM_004211.4:c.1419G>T	NP_004202.3:p.Gln473His
XM_017018544.2:c.543G>T	XP_016874033.1:p.Gln181His
XM_017018545.2:c.378G>T	XP_016874034.1:p.Gln126His
NM_001318369.2:c.717G>T	NP_001305298.1:p.Gln239His
NM_004211.5:c.1419G>T MANE Select	NP_004202.4:p.Gln473His