Canonical Allele Identifier: CA218746115

Gene: SLC6A5

Linked Data

• ClinVar Variation Id: 1402212
• ClinVar RCV Id: RCV001925060 ; RCV004042536
• dbSNP Id: rs979821579
• gnomAD v2: 11-20660019-G-A
• gnomAD v3: 11-20638473-G-A
• gnomAD v4: 11-20638473-G-A
• MyVariant Identifiers: chr11:g.20660019G>A (hg19) ; chr11:g.20638473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638473G>A , CM000673.2:g.20638473G>A	GRCh38
NC_000011.9:g.20660019G>A , CM000673.1:g.20660019G>A	GRCh37
NC_000011.8:g.20616595G>A	NCBI36
NG_013086.1:g.44074G>A
NG_013086.2:g.44074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1884G>A MANE Select	ENSP00000434364.2:p.Met628Ile
ENST00000298923.11:c.*1181G>A	ENSP00000298923.7:n.*1181G>A
ENST00000525748.5:c.1884G>A	ENSP00000434364.1:p.Met628Ile
ENST00000528440.1:n.415G>A
NM_004211.3:c.1884G>A	NP_004202.2:p.Met628Ile
XM_005253225.1:c.1182G>A	XP_005253282.1:p.Met394Ile
XM_011520473.1:c.1884G>A	XP_011518775.1:p.Met628Ile
NM_001318369.1:c.1182G>A	NP_001305298.1:p.Met394Ile
NM_004211.4:c.1884G>A	NP_004202.3:p.Met628Ile
XM_017018544.2:c.1008G>A	XP_016874033.1:p.Met336Ile
XM_017018545.2:c.843G>A	XP_016874034.1:p.Met281Ile
NM_001318369.2:c.1182G>A	NP_001305298.1:p.Met394Ile
NM_004211.5:c.1884G>A MANE Select	NP_004202.4:p.Met628Ile