Canonical Allele Identifier: CA379917176

Gene: SLC6A5

Linked Data

• COSMIC: COSM5558093
• MyVariant Identifiers: chr11:g.20649534A>T (hg19) ; chr11:g.20627988A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627988A>T , CM000673.2:g.20627988A>T	GRCh38
NC_000011.9:g.20649534A>T , CM000673.1:g.20649534A>T	GRCh37
NC_000011.8:g.20606110A>T	NCBI36
NG_013086.1:g.33589A>T
NG_013086.2:g.33589A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1404A>T MANE Select	ENSP00000434364.2:p.Lys468Asn
ENST00000298923.11:c.*701A>T	ENSP00000298923.7:n.*701A>T
ENST00000525748.5:c.1404A>T	ENSP00000434364.1:p.Lys468Asn
NM_004211.3:c.1404A>T	NP_004202.2:p.Lys468Asn
XM_005253225.1:c.702A>T	XP_005253282.1:p.Lys234Asn
XM_011520473.1:c.1404A>T	XP_011518775.1:p.Lys468Asn
NM_001318369.1:c.702A>T	NP_001305298.1:p.Lys234Asn
NM_004211.4:c.1404A>T	NP_004202.3:p.Lys468Asn
XM_017018544.2:c.528A>T	XP_016874033.1:p.Lys176Asn
XM_017018545.2:c.363A>T	XP_016874034.1:p.Lys121Asn
NM_001318369.2:c.702A>T	NP_001305298.1:p.Lys234Asn
NM_004211.5:c.1404A>T MANE Select	NP_004202.4:p.Lys468Asn