Canonical Allele Identifier: CA5921469

Gene: SLC6A5

Linked Data

• dbSNP Id: rs768876541
• ExAC: 11:20649643 C / A
• gnomAD v2: 11-20649643-C-A
• gnomAD v4: 11-20628097-C-A
• MyVariant Identifiers: chr11:g.20649643C>A (hg19) ; chr11:g.20628097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628097C>A , CM000673.2:g.20628097C>A	GRCh38
NC_000011.9:g.20649643C>A , CM000673.1:g.20649643C>A	GRCh37
NC_000011.8:g.20606219C>A	NCBI36
NG_013086.1:g.33698C>A
NG_013086.2:g.33698C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+14C>A MANE Select	ENSP00000434364.2:n.1499+14C>A
ENST00000298923.11:c.*796+14C>A	ENSP00000298923.7:n.*796+14C>A
ENST00000525748.5:c.1499+14C>A	ENSP00000434364.1:n.1499+14C>A
NM_004211.3:c.1499+14C>A	NP_004202.2:n.1499+14C>A
XM_005253225.1:c.797+14C>A	XP_005253282.1:n.797+14C>A
XM_011520473.1:c.1499+14C>A	XP_011518775.1:n.1499+14C>A
NM_001318369.1:c.797+14C>A	NP_001305298.1:n.797+14C>A
NM_004211.4:c.1499+14C>A	NP_004202.3:n.1499+14C>A
XM_017018544.2:c.623+14C>A	XP_016874033.1:n.623+14C>A
XM_017018545.2:c.458+14C>A	XP_016874034.1:n.458+14C>A
NM_001318369.2:c.797+14C>A	NP_001305298.1:n.797+14C>A
NM_004211.5:c.1499+14C>A MANE Select	NP_004202.4:n.1499+14C>A