Canonical Allele Identifier: CA379917258
Gene: SLC6A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628025G>C , CM000673.2:g.20628025G>C GRCh38
NC_000011.9:g.20649571G>C , CM000673.1:g.20649571G>C GRCh37
NC_000011.8:g.20606147G>C NCBI36
NG_013086.1:g.33626G>C
NG_013086.2:g.33626G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1441G>C MANE Select ENSP00000434364.2:p.Ala481Pro
ENST00000298923.11:c.*738G>C ENSP00000298923.7:n.*738G>C
ENST00000525748.5:c.1441G>C ENSP00000434364.1:p.Ala481Pro
NM_004211.3:c.1441G>C NP_004202.2:p.Ala481Pro
XM_005253225.1:c.739G>C XP_005253282.1:p.Ala247Pro
XM_011520473.1:c.1441G>C XP_011518775.1:p.Ala481Pro
NM_001318369.1:c.739G>C NP_001305298.1:p.Ala247Pro
NM_004211.4:c.1441G>C NP_004202.3:p.Ala481Pro
XM_017018544.2:c.565G>C XP_016874033.1:p.Ala189Pro
XM_017018545.2:c.400G>C XP_016874034.1:p.Ala134Pro
NM_001318369.2:c.739G>C NP_001305298.1:p.Ala247Pro
NM_004211.5:c.1441G>C MANE Select NP_004202.4:p.Ala481Pro