Canonical Allele Identifier: CA379917102

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20626821G>A , CM000673.2:g.20626821G>A	GRCh38
NC_000011.9:g.20648367G>A , CM000673.1:g.20648367G>A	GRCh37
NC_000011.8:g.20604943G>A	NCBI36
NG_013086.1:g.32422G>A
NG_013086.2:g.32422G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1374G>A MANE Select	NP_004202.4:p.Trp458Ter
ENST00000525748.6:c.1374G>A MANE Select	ENSP00000434364.2:p.Trp458Ter
NM_001318369.1:c.672G>A	NP_001305298.1:p.Trp224Ter
NM_001318369.2:c.672G>A	NP_001305298.1:p.Trp224Ter
NM_004211.3:c.1374G>A	NP_004202.2:p.Trp458Ter
NM_004211.4:c.1374G>A	NP_004202.3:p.Trp458Ter
ENST00000298923.11:c.*671G>A	ENSP00000298923.7:n.*671G>A
ENST00000525748.5:c.1374G>A	ENSP00000434364.1:p.Trp458Ter
XM_005253225.1:c.672G>A	XP_005253282.1:p.Trp224Ter
XM_011520473.1:c.1374G>A	XP_011518775.1:p.Trp458Ter
XM_017018544.2:c.498G>A	XP_016874033.1:p.Trp166Ter
XM_017018545.2:c.333G>A	XP_016874034.1:p.Trp111Ter