Canonical Allele Identifier: CA218739565

Gene: SLC6A5

Linked Data

• dbSNP Id: rs927421979
• gnomAD v4: 11-20628155-A-G
• MyVariant Identifiers: chr11:g.20649701A>G (hg19) ; chr11:g.20628155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628155A>G , CM000673.2:g.20628155A>G	GRCh38
NC_000011.9:g.20649701A>G , CM000673.1:g.20649701A>G	GRCh37
NC_000011.8:g.20606277A>G	NCBI36
NG_013086.1:g.33756A>G
NG_013086.2:g.33756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+72A>G MANE Select	ENSP00000434364.2:n.1499+72A>G
ENST00000298923.11:c.*796+72A>G	ENSP00000298923.7:n.*796+72A>G
ENST00000525748.5:c.1499+72A>G	ENSP00000434364.1:n.1499+72A>G
NM_004211.3:c.1499+72A>G	NP_004202.2:n.1499+72A>G
XM_005253225.1:c.797+72A>G	XP_005253282.1:n.797+72A>G
XM_011520473.1:c.1499+72A>G	XP_011518775.1:n.1499+72A>G
NM_001318369.1:c.797+72A>G	NP_001305298.1:n.797+72A>G
NM_004211.4:c.1499+72A>G	NP_004202.3:n.1499+72A>G
XM_017018544.2:c.623+72A>G	XP_016874033.1:n.623+72A>G
XM_017018545.2:c.458+72A>G	XP_016874034.1:n.458+72A>G
NM_001318369.2:c.797+72A>G	NP_001305298.1:n.797+72A>G
NM_004211.5:c.1499+72A>G MANE Select	NP_004202.4:n.1499+72A>G