Canonical Allele Identifier: CA5921452

Gene: SLC6A5

Linked Data

• dbSNP Id: rs146042684
• ExAC: 11:20649543 C / G
• gnomAD v2: 11-20649543-C-G
• MyVariant Identifiers: chr11:g.20649543C>G (hg19) ; chr11:g.20627997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627997C>G , CM000673.2:g.20627997C>G	GRCh38
NC_000011.9:g.20649543C>G , CM000673.1:g.20649543C>G	GRCh37
NC_000011.8:g.20606119C>G	NCBI36
NG_013086.1:g.33598C>G
NG_013086.2:g.33598C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1413C>G MANE Select	ENSP00000434364.2:p.Ala471=
ENST00000298923.11:c.*710C>G	ENSP00000298923.7:n.*710C>G
ENST00000525748.5:c.1413C>G	ENSP00000434364.1:p.Ala471=
NM_004211.3:c.1413C>G	NP_004202.2:p.Ala471=
XM_005253225.1:c.711C>G	XP_005253282.1:p.Ala237=
XM_011520473.1:c.1413C>G	XP_011518775.1:p.Ala471=
NM_001318369.1:c.711C>G	NP_001305298.1:p.Ala237=
NM_004211.4:c.1413C>G	NP_004202.3:p.Ala471=
XM_017018544.2:c.537C>G	XP_016874033.1:p.Ala179=
XM_017018545.2:c.372C>G	XP_016874034.1:p.Ala124=
NM_001318369.2:c.711C>G	NP_001305298.1:p.Ala237=
NM_004211.5:c.1413C>G MANE Select	NP_004202.4:p.Ala471=