Canonical Allele Identifier: CA2580082887

Gene: SLC6A5

Linked Data

• ClinVar Variation Id: 2135089
• ClinVar RCV Id: RCV003048455
• gnomAD v4: 11-20627975-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627975C>A , CM000673.2:g.20627975C>A	GRCh38
NC_000011.9:g.20649521C>A , CM000673.1:g.20649521C>A	GRCh37
NC_000011.8:g.20606097C>A	NCBI36
NG_013086.1:g.33576C>A
NG_013086.2:g.33576C>A

Transcript Alleles

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