Canonical Allele Identifier: CA1956619758

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628046C= , CM000673.2:g.20628046C=	GRCh38
NC_000011.9:g.20649592C= , CM000673.1:g.20649592C=	GRCh37
NC_000011.8:g.20606168C=	NCBI36
NG_013086.1:g.33647C=
NG_013086.2:g.33647C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1462C= MANE Select	ENSP00000434364.2:p.Leu488=
ENST00000298923.11:c.*759C=	ENSP00000298923.7:n.*759C=
ENST00000525748.5:c.1462C=	ENSP00000434364.1:p.Leu488=
NM_004211.3:c.1462C=	NP_004202.2:p.Leu488=
XM_005253225.1:c.760C=	XP_005253282.1:p.Leu254=
XM_011520473.1:c.1462C=	XP_011518775.1:p.Leu488=
NM_001318369.1:c.760C=	NP_001305298.1:p.Leu254=
NM_004211.4:c.1462C=	NP_004202.3:p.Leu488=
XM_017018544.2:c.586C=	XP_016874033.1:p.Leu196=
XM_017018545.2:c.421C=	XP_016874034.1:p.Leu141=
NM_001318369.2:c.760C=	NP_001305298.1:p.Leu254=
NM_004211.5:c.1462C= MANE Select	NP_004202.4:p.Leu488=