Canonical Allele Identifier: CA218741080

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20630812C>T , CM000673.2:g.20630812C>T	GRCh38
NC_000011.9:g.20652358C>T , CM000673.1:g.20652358C>T	GRCh37
NC_000011.8:g.20608934C>T	NCBI36
NG_013086.1:g.36413C>T
NG_013086.2:g.36413C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1621C>T MANE Select	NP_004202.4:p.Gln541Ter
ENST00000525748.6:c.1621C>T MANE Select	ENSP00000434364.2:p.Gln541Ter
NM_001318369.1:c.919C>T	NP_001305298.1:p.Gln307Ter
NM_001318369.2:c.919C>T	NP_001305298.1:p.Gln307Ter
NM_004211.3:c.1621C>T	NP_004202.2:p.Gln541Ter
NM_004211.4:c.1621C>T	NP_004202.3:p.Gln541Ter
ENST00000298923.11:c.*918C>T	ENSP00000298923.7:n.*918C>T
ENST00000525748.5:c.1621C>T	ENSP00000434364.1:p.Gln541Ter
ENST00000528440.1:n.152C>T
XM_005253225.1:c.919C>T	XP_005253282.1:p.Gln307Ter
XM_011520473.1:c.1621C>T	XP_011518775.1:p.Gln541Ter
XM_017018544.2:c.745C>T	XP_016874033.1:p.Gln249Ter
XM_017018545.2:c.580C>T	XP_016874034.1:p.Gln194Ter