Canonical Allele Identifier: CA379917355
Gene: SLC6A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628070A>C , CM000673.2:g.20628070A>C GRCh38
NC_000011.9:g.20649616A>C , CM000673.1:g.20649616A>C GRCh37
NC_000011.8:g.20606192A>C NCBI36
NG_013086.1:g.33671A>C
NG_013086.2:g.33671A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1486A>C MANE Select ENSP00000434364.2:p.Asn496His
ENST00000298923.11:c.*783A>C ENSP00000298923.7:n.*783A>C
ENST00000525748.5:c.1486A>C ENSP00000434364.1:p.Asn496His
NM_004211.3:c.1486A>C NP_004202.2:p.Asn496His
XM_005253225.1:c.784A>C XP_005253282.1:p.Asn262His
XM_011520473.1:c.1486A>C XP_011518775.1:p.Asn496His
NM_001318369.1:c.784A>C NP_001305298.1:p.Asn262His
NM_004211.4:c.1486A>C NP_004202.3:p.Asn496His
XM_017018544.2:c.610A>C XP_016874033.1:p.Asn204His
XM_017018545.2:c.445A>C XP_016874034.1:p.Asn149His
NM_001318369.2:c.784A>C NP_001305298.1:p.Asn262His
NM_004211.5:c.1486A>C MANE Select NP_004202.4:p.Asn496His