Canonical Allele Identifier: CA379917276

Gene: SLC6A5

Linked Data

• MyVariant Identifiers: chr11:g.20649578G>T (hg19) ; chr11:g.20628032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628032G>T , CM000673.2:g.20628032G>T	GRCh38
NC_000011.9:g.20649578G>T , CM000673.1:g.20649578G>T	GRCh37
NC_000011.8:g.20606154G>T	NCBI36
NG_013086.1:g.33633G>T
NG_013086.2:g.33633G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1448G>T MANE Select	ENSP00000434364.2:p.Gly483Val
ENST00000298923.11:c.*745G>T	ENSP00000298923.7:n.*745G>T
ENST00000525748.5:c.1448G>T	ENSP00000434364.1:p.Gly483Val
NM_004211.3:c.1448G>T	NP_004202.2:p.Gly483Val
XM_005253225.1:c.746G>T	XP_005253282.1:p.Gly249Val
XM_011520473.1:c.1448G>T	XP_011518775.1:p.Gly483Val
NM_001318369.1:c.746G>T	NP_001305298.1:p.Gly249Val
NM_004211.4:c.1448G>T	NP_004202.3:p.Gly483Val
XM_017018544.2:c.572G>T	XP_016874033.1:p.Gly191Val
XM_017018545.2:c.407G>T	XP_016874034.1:p.Gly136Val
NM_001318369.2:c.746G>T	NP_001305298.1:p.Gly249Val
NM_004211.5:c.1448G>T MANE Select	NP_004202.4:p.Gly483Val