Canonical Allele Identifier: CA5921443

Gene: SLC6A5

Linked Data

• ClinVar Variation Id: 1989624
• ClinVar RCV Id: RCV002795760
• dbSNP Id: rs749693900
• ExAC: 11:20649511 C / T
• gnomAD v2: 11-20649511-C-T
• gnomAD v4: 11-20627965-C-T
• MyVariant Identifiers: chr11:g.20649511C>T (hg19) ; chr11:g.20627965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627965C>T , CM000673.2:g.20627965C>T	GRCh38
NC_000011.9:g.20649511C>T , CM000673.1:g.20649511C>T	GRCh37
NC_000011.8:g.20606087C>T	NCBI36
NG_013086.1:g.33566C>T
NG_013086.2:g.33566C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.1396-15C>T MANE Select	ENSP00000434364.2:n.1396-15C>T
ENST00000298923.11:c.*693-15C>T	ENSP00000298923.7:n.*693-15C>T
ENST00000525748.5:c.1396-15C>T	ENSP00000434364.1:n.1396-15C>T
NM_004211.3:c.1396-15C>T	NP_004202.2:n.1396-15C>T
XM_005253225.1:c.694-15C>T	XP_005253282.1:n.694-15C>T
XM_011520473.1:c.1396-15C>T	XP_011518775.1:n.1396-15C>T
NM_001318369.1:c.694-15C>T	NP_001305298.1:n.694-15C>T
NM_004211.4:c.1396-15C>T	NP_004202.3:n.1396-15C>T
XM_017018544.2:c.520-15C>T	XP_016874033.1:n.520-15C>T
XM_017018545.2:c.355-15C>T	XP_016874034.1:n.355-15C>T
NM_001318369.2:c.694-15C>T	NP_001305298.1:n.694-15C>T
NM_004211.5:c.1396-15C>T MANE Select	NP_004202.4:n.1396-15C>T