Canonical Allele Identifier: CA5921057

Gene: SLC6A5

Linked Data

• ClinVar Variation Id: 304006
• ClinVar RCV Id: RCV001514591 ; RCV001528467
• dbSNP Id: rs2241941
• ExAC: 11:20623023 C / T
• gnomAD v2: 11-20623023-C-T
• gnomAD v3: 11-20601477-C-T
• gnomAD v4: 11-20601477-C-T
• MyVariant Identifiers: chr11:g.20623023C>T (hg19) ; chr11:g.20601477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20601477C>T , CM000673.2:g.20601477C>T	GRCh38
NC_000011.9:g.20623023C>T , CM000673.1:g.20623023C>T	GRCh37
NC_000011.8:g.20579599C>T	NCBI36
NG_013086.1:g.7078C>T
NG_013086.2:g.7078C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.352C>T MANE Select	ENSP00000434364.2:p.Leu118=
ENST00000298923.11:c.352C>T	ENSP00000298923.7:p.Leu118=
ENST00000525748.5:c.352C>T	ENSP00000434364.1:p.Leu118=
NM_004211.3:c.352C>T	NP_004202.2:p.Leu118=
XM_005253225.1:c.-212C>T	XP_005253282.1:n.-212C>T
XM_011520473.1:c.352C>T	XP_011518775.1:p.Leu118=
NM_001318369.1:c.-212C>T	NP_001305298.1:n.-212C>T
NM_004211.4:c.352C>T	NP_004202.3:p.Leu118=
XM_017018545.2:c.-57+1802C>T	XP_016874034.1:n.-57+1802C>T
NM_001318369.2:c.-212C>T	NP_001305298.1:n.-212C>T
NM_004211.5:c.352C>T MANE Select	NP_004202.4:p.Leu118=