Canonical Allele Identifier: CA379917238

Gene: SLC6A5

Linked Data

• gnomAD v3: 11-20628014-C-T
• gnomAD v4: 11-20628014-C-T
• MyVariant Identifiers: chr11:g.20649560C>T (hg19) ; chr11:g.20628014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628014C>T , CM000673.2:g.20628014C>T	GRCh38
NC_000011.9:g.20649560C>T , CM000673.1:g.20649560C>T	GRCh37
NC_000011.8:g.20606136C>T	NCBI36
NG_013086.1:g.33615C>T
NG_013086.2:g.33615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1430C>T MANE Select	ENSP00000434364.2:p.Ser477Phe
ENST00000298923.11:c.*727C>T	ENSP00000298923.7:n.*727C>T
ENST00000525748.5:c.1430C>T	ENSP00000434364.1:p.Ser477Phe
NM_004211.3:c.1430C>T	NP_004202.2:p.Ser477Phe
XM_005253225.1:c.728C>T	XP_005253282.1:p.Ser243Phe
XM_011520473.1:c.1430C>T	XP_011518775.1:p.Ser477Phe
NM_001318369.1:c.728C>T	NP_001305298.1:p.Ser243Phe
NM_004211.4:c.1430C>T	NP_004202.3:p.Ser477Phe
XM_017018544.2:c.554C>T	XP_016874033.1:p.Ser185Phe
XM_017018545.2:c.389C>T	XP_016874034.1:p.Ser130Phe
NM_001318369.2:c.728C>T	NP_001305298.1:p.Ser243Phe
NM_004211.5:c.1430C>T MANE Select	NP_004202.4:p.Ser477Phe