Canonical Allele Identifier: CA379917208

Gene: SLC6A5

Linked Data

• MyVariant Identifiers: chr11:g.20649548A>T (hg19) ; chr11:g.20628002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628002A>T , CM000673.2:g.20628002A>T	GRCh38
NC_000011.9:g.20649548A>T , CM000673.1:g.20649548A>T	GRCh37
NC_000011.8:g.20606124A>T	NCBI36
NG_013086.1:g.33603A>T
NG_013086.2:g.33603A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1418A>T MANE Select	ENSP00000434364.2:p.Gln473Leu
ENST00000298923.11:c.*715A>T	ENSP00000298923.7:n.*715A>T
ENST00000525748.5:c.1418A>T	ENSP00000434364.1:p.Gln473Leu
NM_004211.3:c.1418A>T	NP_004202.2:p.Gln473Leu
XM_005253225.1:c.716A>T	XP_005253282.1:p.Gln239Leu
XM_011520473.1:c.1418A>T	XP_011518775.1:p.Gln473Leu
NM_001318369.1:c.716A>T	NP_001305298.1:p.Gln239Leu
NM_004211.4:c.1418A>T	NP_004202.3:p.Gln473Leu
XM_017018544.2:c.542A>T	XP_016874033.1:p.Gln181Leu
XM_017018545.2:c.377A>T	XP_016874034.1:p.Gln126Leu
NM_001318369.2:c.716A>T	NP_001305298.1:p.Gln239Leu
NM_004211.5:c.1418A>T MANE Select	NP_004202.4:p.Gln473Leu