Canonical Allele Identifier: CA379918610
Gene: SLC6A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 426757
ClinVar RCV Id: RCV000489153
dbSNP Id: rs1085307782
MyVariant Identifiers: chr11:g.20660027T>C (hg19) chr11:g.20638481T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20638481T>C , CM000673.2:g.20638481T>C GRCh38
NC_000011.9:g.20660027T>C , CM000673.1:g.20660027T>C GRCh37
NC_000011.8:g.20616603T>C NCBI36
NG_013086.1:g.44082T>C
NG_013086.2:g.44082T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525748.6:c.1892T>C MANE Select ENSP00000434364.2:p.Leu631Pro
ENST00000298923.11:c.*1189T>C ENSP00000298923.7:n.*1189T>C
ENST00000525748.5:c.1892T>C ENSP00000434364.1:p.Leu631Pro
ENST00000528440.1:n.423T>C
NM_004211.3:c.1892T>C NP_004202.2:p.Leu631Pro
XM_005253225.1:c.1190T>C XP_005253282.1:p.Leu397Pro
XM_011520473.1:c.1892T>C XP_011518775.1:p.Leu631Pro
NM_001318369.1:c.1190T>C NP_001305298.1:p.Leu397Pro
NM_004211.4:c.1892T>C NP_004202.3:p.Leu631Pro
XM_017018544.2:c.1016T>C XP_016874033.1:p.Leu339Pro
XM_017018545.2:c.851T>C XP_016874034.1:p.Leu284Pro
NM_001318369.2:c.1190T>C NP_001305298.1:p.Leu397Pro
NM_004211.5:c.1892T>C MANE Select NP_004202.4:p.Leu631Pro
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