Canonical Allele Identifier: CA5921179

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20607021C>T , CM000673.2:g.20607021C>T	GRCh38
NC_000011.9:g.20628567C>T , CM000673.1:g.20628567C>T	GRCh37
NC_000011.8:g.20585143C>T	NCBI36
NG_013086.1:g.12622C>T
NG_013086.2:g.12622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.694C>T MANE Select	ENSP00000434364.2:p.Pro232Ser
ENST00000298923.11:c.555C>T	ENSP00000298923.7:p.Ser185=
ENST00000525748.5:c.694C>T	ENSP00000434364.1:p.Pro232Ser
NM_004211.3:c.694C>T	NP_004202.2:p.Pro232Ser
XM_005253225.1:c.-9C>T	XP_005253282.1:n.-9C>T
XM_011520473.1:c.694C>T	XP_011518775.1:p.Pro232Ser
NM_001318369.1:c.-9C>T	NP_001305298.1:n.-9C>T
NM_004211.4:c.694C>T	NP_004202.3:p.Pro232Ser
XM_017018544.2:c.-9C>T	XP_016874033.1:n.-9C>T
XM_017018545.2:c.-57+7346C>T	XP_016874034.1:n.-57+7346C>T
NM_001318369.2:c.-9C>T	NP_001305298.1:n.-9C>T
NM_004211.5:c.694C>T MANE Select	NP_004202.4:p.Pro232Ser