Canonical Allele Identifier: CA935753287

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1853030177
• gnomAD v3: 11-20627918-T-G
• gnomAD v4: 11-20627918-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627918T>G , CM000673.2:g.20627918T>G	GRCh38
NC_000011.9:g.20649464T>G , CM000673.1:g.20649464T>G	GRCh37
NC_000011.8:g.20606040T>G	NCBI36
NG_013086.1:g.33519T>G
NG_013086.2:g.33519T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1396-62T>G MANE Select	ENSP00000434364.2:n.1396-62T>G
ENST00000298923.11:c.*693-62T>G	ENSP00000298923.7:n.*693-62T>G
ENST00000525748.5:c.1396-62T>G	ENSP00000434364.1:n.1396-62T>G
NM_004211.3:c.1396-62T>G	NP_004202.2:n.1396-62T>G
XM_005253225.1:c.694-62T>G	XP_005253282.1:n.694-62T>G
XM_011520473.1:c.1396-62T>G	XP_011518775.1:n.1396-62T>G
NM_001318369.1:c.694-62T>G	NP_001305298.1:n.694-62T>G
NM_004211.4:c.1396-62T>G	NP_004202.3:n.1396-62T>G
XM_017018544.2:c.520-62T>G	XP_016874033.1:n.520-62T>G
XM_017018545.2:c.355-62T>G	XP_016874034.1:n.355-62T>G
NM_001318369.2:c.694-62T>G	NP_001305298.1:n.694-62T>G
NM_004211.5:c.1396-62T>G MANE Select	NP_004202.4:n.1396-62T>G