Canonical Allele Identifier: CA379913793

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20607084C>T , CM000673.2:g.20607084C>T	GRCh38
NC_000011.9:g.20628630C>T , CM000673.1:g.20628630C>T	GRCh37
NC_000011.8:g.20585206C>T	NCBI36
NG_013086.1:g.12685C>T
NG_013086.2:g.12685C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.757C>T MANE Select	NP_004202.4:p.Gln253Ter
ENST00000525748.6:c.757C>T MANE Select	ENSP00000434364.2:p.Gln253Ter
NM_001318369.1:c.55C>T	NP_001305298.1:p.Gln19Ter
NM_001318369.2:c.55C>T	NP_001305298.1:p.Gln19Ter
NM_004211.3:c.757C>T	NP_004202.2:p.Gln253Ter
NM_004211.4:c.757C>T	NP_004202.3:p.Gln253Ter
ENST00000298923.11:c.*54C>T	ENSP00000298923.7:n.*54C>T
ENST00000525748.5:c.757C>T	ENSP00000434364.1:p.Gln253Ter
XM_005253225.1:c.55C>T	XP_005253282.1:p.Gln19Ter
XM_011520473.1:c.757C>T	XP_011518775.1:p.Gln253Ter
XM_017018544.2:c.55C>T	XP_016874033.1:p.Gln19Ter
XM_017018545.2:c.-57+7409C>T	XP_016874034.1:n.-57+7409C>T