Canonical Allele Identifier: CA935753358

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1853037308
• gnomAD v3: 11-20628113-T-TAGCTGGTGAGTGGGACAGAAGAATGGACTGAGTTATCAGACACCTG
• gnomAD v4: 11-20628113-T-TAGCTGGTGAGTGGGACAGAAGAATGGACTGAGTTATCAGACACCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628116_20628161dup , CM000673.2:g.20628116_20628161dup	GRCh38
NC_000011.9:g.20649662_20649707dup , CM000673.1:g.20649662_20649707dup	GRCh37
NC_000011.8:g.20606238_20606283dup	NCBI36
NG_013086.1:g.33717_33762dup
NG_013086.2:g.33717_33762dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+33_1499+78dup MANE Select	ENSP00000434364.2:n.1499+33_1499+78dup
ENST00000298923.11:c.*796+33_*796+78dup	ENSP00000298923.7:n.*796+33_*796+78dup
ENST00000525748.5:c.1499+33_1499+78dup	ENSP00000434364.1:n.1499+33_1499+78dup
NM_004211.3:c.1499+33_1499+78dup	NP_004202.2:n.1499+33_1499+78dup
XM_005253225.1:c.797+33_797+78dup	XP_005253282.1:n.797+33_797+78dup
XM_011520473.1:c.1499+33_1499+78dup	XP_011518775.1:n.1499+33_1499+78dup
NM_001318369.1:c.797+33_797+78dup	NP_001305298.1:n.797+33_797+78dup
NM_004211.4:c.1499+33_1499+78dup	NP_004202.3:n.1499+33_1499+78dup
XM_017018544.2:c.623+33_623+78dup	XP_016874033.1:n.623+33_623+78dup
XM_017018545.2:c.458+33_458+78dup	XP_016874034.1:n.458+33_458+78dup
NM_001318369.2:c.797+33_797+78dup	NP_001305298.1:n.797+33_797+78dup
NM_004211.5:c.1499+33_1499+78dup MANE Select	NP_004202.4:n.1499+33_1499+78dup