Canonical Allele Identifier: CA379917841

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20636321T>C , CM000673.2:g.20636321T>C	GRCh38
NC_000011.9:g.20657867T>C , CM000673.1:g.20657867T>C	GRCh37
NC_000011.8:g.20614443T>C	NCBI36
NG_013086.1:g.41922T>C
NG_013086.2:g.41922T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1639T>C MANE Select	NP_004202.4:p.Phe547Leu
ENST00000525748.6:c.1639T>C MANE Select	ENSP00000434364.2:p.Phe547Leu
NM_001318369.1:c.937T>C	NP_001305298.1:p.Phe313Leu
NM_001318369.2:c.937T>C	NP_001305298.1:p.Phe313Leu
NM_004211.3:c.1639T>C	NP_004202.2:p.Phe547Leu
NM_004211.4:c.1639T>C	NP_004202.3:p.Phe547Leu
ENST00000298923.11:c.*936T>C	ENSP00000298923.7:n.*936T>C
ENST00000525748.5:c.1639T>C	ENSP00000434364.1:p.Phe547Leu
ENST00000528440.1:n.170T>C
XM_005253225.1:c.937T>C	XP_005253282.1:p.Phe313Leu
XM_011520473.1:c.1639T>C	XP_011518775.1:p.Phe547Leu
XM_017018544.2:c.763T>C	XP_016874033.1:p.Phe255Leu
XM_017018545.2:c.598T>C	XP_016874034.1:p.Phe200Leu