Canonical Allele Identifier: CA379918605

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20638479-G-T
• MyVariant Identifiers: chr11:g.20660025G>T (hg19) ; chr11:g.20638479G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638479G>T , CM000673.2:g.20638479G>T	GRCh38
NC_000011.9:g.20660025G>T , CM000673.1:g.20660025G>T	GRCh37
NC_000011.8:g.20616601G>T	NCBI36
NG_013086.1:g.44080G>T
NG_013086.2:g.44080G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1890G>T MANE Select	ENSP00000434364.2:p.Gln630His
ENST00000298923.11:c.*1187G>T	ENSP00000298923.7:n.*1187G>T
ENST00000525748.5:c.1890G>T	ENSP00000434364.1:p.Gln630His
ENST00000528440.1:n.421G>T
NM_004211.3:c.1890G>T	NP_004202.2:p.Gln630His
XM_005253225.1:c.1188G>T	XP_005253282.1:p.Gln396His
XM_011520473.1:c.1890G>T	XP_011518775.1:p.Gln630His
NM_001318369.1:c.1188G>T	NP_001305298.1:p.Gln396His
NM_004211.4:c.1890G>T	NP_004202.3:p.Gln630His
XM_017018544.2:c.1014G>T	XP_016874033.1:p.Gln338His
XM_017018545.2:c.849G>T	XP_016874034.1:p.Gln283His
NM_001318369.2:c.1188G>T	NP_001305298.1:p.Gln396His
NM_004211.5:c.1890G>T MANE Select	NP_004202.4:p.Gln630His