Canonical Allele Identifier: CA343002

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628028T>C , CM000673.2:g.20628028T>C	GRCh38
NC_000011.9:g.20649574T>C , CM000673.1:g.20649574T>C	GRCh37
NC_000011.8:g.20606150T>C	NCBI36
NG_013086.1:g.33629T>C
NG_013086.2:g.33629T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1444T>C MANE Select	NP_004202.4:p.Trp482Arg
ENST00000525748.6:c.1444T>C MANE Select	ENSP00000434364.2:p.Trp482Arg
NM_001318369.1:c.742T>C	NP_001305298.1:p.Trp248Arg
NM_001318369.2:c.742T>C	NP_001305298.1:p.Trp248Arg
NM_004211.3:c.1444T>C	NP_004202.2:p.Trp482Arg
NM_004211.4:c.1444T>C	NP_004202.3:p.Trp482Arg
ENST00000298923.11:c.*741T>C	ENSP00000298923.7:n.*741T>C
ENST00000525748.5:c.1444T>C	ENSP00000434364.1:p.Trp482Arg
XM_005253225.1:c.742T>C	XP_005253282.1:p.Trp248Arg
XM_011520473.1:c.1444T>C	XP_011518775.1:p.Trp482Arg
XM_017018544.2:c.568T>C	XP_016874033.1:p.Trp190Arg
XM_017018545.2:c.403T>C	XP_016874034.1:p.Trp135Arg