Canonical Allele Identifier: CA5921711

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20652389G>C , CM000673.2:g.20652389G>C	GRCh38
NC_000011.9:g.20673935G>C , CM000673.1:g.20673935G>C	GRCh37
NC_000011.8:g.20630511G>C	NCBI36
NG_013086.1:g.57990G>C
NG_013086.2:g.57990G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.2171G>C MANE Select	NP_004202.4:p.Cys724Ser
ENST00000525748.6:c.2171G>C MANE Select	ENSP00000434364.2:p.Cys724Ser
NM_001318369.1:c.1469G>C	NP_001305298.1:p.Cys490Ser
NM_001318369.2:c.1469G>C	NP_001305298.1:p.Cys490Ser
NM_004211.3:c.2171G>C	NP_004202.2:p.Cys724Ser
NM_004211.4:c.2171G>C	NP_004202.3:p.Cys724Ser
ENST00000298923.11:c.*1468G>C	ENSP00000298923.7:n.*1468G>C
ENST00000525748.5:c.2171G>C	ENSP00000434364.1:p.Cys724Ser
ENST00000528440.1:n.702G>C
XM_005253225.1:c.1469G>C	XP_005253282.1:p.Cys490Ser
XM_011520473.1:c.2171G>C	XP_011518775.1:p.Cys724Ser
XM_017018544.2:c.1295G>C	XP_016874033.1:p.Cys432Ser
XM_017018545.2:c.1130G>C	XP_016874034.1:p.Cys377Ser