Canonical Allele Identifier: CA1956619844
Gene: SLC6A5 HGNC NCBI

Linked Data

dbSNP Id: rs1853040101

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628230T>G , CM000673.2:g.20628230T>G GRCh38
NC_000011.9:g.20649776T>G , CM000673.1:g.20649776T>G GRCh37
NC_000011.8:g.20606352T>G NCBI36
NG_013086.1:g.33831T>G
NG_013086.2:g.33831T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1499+147T>G MANE Select ENSP00000434364.2:n.1499+147T>G
ENST00000298923.11:c.*796+147T>G ENSP00000298923.7:n.*796+147T>G
ENST00000525748.5:c.1499+147T>G ENSP00000434364.1:n.1499+147T>G
NM_004211.3:c.1499+147T>G NP_004202.2:n.1499+147T>G
XM_005253225.1:c.797+147T>G XP_005253282.1:n.797+147T>G
XM_011520473.1:c.1499+147T>G XP_011518775.1:n.1499+147T>G
NM_001318369.1:c.797+147T>G NP_001305298.1:n.797+147T>G
NM_004211.4:c.1499+147T>G NP_004202.3:n.1499+147T>G
XM_017018544.2:c.623+147T>G XP_016874033.1:n.623+147T>G
XM_017018545.2:c.458+147T>G XP_016874034.1:n.458+147T>G
NM_001318369.2:c.797+147T>G NP_001305298.1:n.797+147T>G
NM_004211.5:c.1499+147T>G MANE Select NP_004202.4:n.1499+147T>G