Canonical Allele Identifier: CA218727379

Gene: SLC6A5

Linked Data

• dbSNP Id: rs117113122
• gnomAD v2: 11-20639201-A-G
• gnomAD v3: 11-20617655-A-G
• gnomAD v4: 11-20617655-A-G
• MyVariant Identifiers: chr11:g.20639201A>G (hg19) ; chr11:g.20617655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20617655A>G , CM000673.2:g.20617655A>G	GRCh38
NC_000011.9:g.20639201A>G , CM000673.1:g.20639201A>G	GRCh37
NC_000011.8:g.20595777A>G	NCBI36
NG_013086.1:g.23256A>G
NG_013086.2:g.23256A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.1128-97A>G MANE Select	ENSP00000434364.2:n.1128-97A>G
ENST00000298923.11:c.*425-97A>G	ENSP00000298923.7:n.*425-97A>G
ENST00000525748.5:c.1128-97A>G	ENSP00000434364.1:n.1128-97A>G
NM_004211.3:c.1128-97A>G	NP_004202.2:n.1128-97A>G
XM_005253225.1:c.426-97A>G	XP_005253282.1:n.426-97A>G
XM_011520473.1:c.1128-97A>G	XP_011518775.1:n.1128-97A>G
NM_001318369.1:c.426-97A>G	NP_001305298.1:n.426-97A>G
NM_004211.4:c.1128-97A>G	NP_004202.3:n.1128-97A>G
XM_017018544.2:c.252-97A>G	XP_016874033.1:n.252-97A>G
XM_017018545.2:c.87-97A>G	XP_016874034.1:n.87-97A>G
NM_001318369.2:c.426-97A>G	NP_001305298.1:n.426-97A>G
NM_004211.5:c.1128-97A>G MANE Select	NP_004202.4:n.1128-97A>G