Canonical Allele Identifier: CA379912066

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20601496T>A , CM000673.2:g.20601496T>A	GRCh38
NC_000011.9:g.20623042T>A , CM000673.1:g.20623042T>A	GRCh37
NC_000011.8:g.20579618T>A	NCBI36
NG_013086.1:g.7097T>A
NG_013086.2:g.7097T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.371T>A MANE Select	ENSP00000434364.2:p.Phe124Tyr
ENST00000298923.11:c.371T>A	ENSP00000298923.7:p.Phe124Tyr
ENST00000525748.5:c.371T>A	ENSP00000434364.1:p.Phe124Tyr
NM_004211.3:c.371T>A	NP_004202.2:p.Phe124Tyr
XM_005253225.1:c.-193T>A	XP_005253282.1:n.-193T>A
XM_011520473.1:c.371T>A	XP_011518775.1:p.Phe124Tyr
NM_001318369.1:c.-193T>A	NP_001305298.1:n.-193T>A
NM_004211.4:c.371T>A	NP_004202.3:p.Phe124Tyr
XM_017018545.2:c.-57+1821T>A	XP_016874034.1:n.-57+1821T>A
NM_001318369.2:c.-193T>A	NP_001305298.1:n.-193T>A
NM_004211.5:c.371T>A MANE Select	NP_004202.4:p.Phe124Tyr