Canonical Allele Identifier: CA1630848630
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.371T= MANE Select ENSP00000434364.2:p.Phe124=
ENST00000298923.11:c.371T= ENSP00000298923.7:p.Phe124=
ENST00000525748.5:c.371T= ENSP00000434364.1:p.Phe124=
NM_004211.3:c.371T= NP_004202.2:p.Phe124=
XM_005253225.1:c.-193T= XP_005253282.1:n.-193T=
XM_011520473.1:c.371T= XP_011518775.1:p.Phe124=
NM_001318369.1:c.-193T= NP_001305298.1:n.-193T=
NM_004211.4:c.371T= NP_004202.3:p.Phe124=
XM_017018545.2:c.-57+1821T= XP_016874034.1:n.-57+1821T=
NM_001318369.2:c.-193T= NP_001305298.1:n.-193T=
NM_004211.5:c.371T= MANE Select NP_004202.4:p.Phe124=