Canonical Allele Identifier: CA5921037

Gene: SLC6A5

Linked Data

• ClinVar Variation Id: 1095691
• ClinVar RCV Id: RCV001416699
• dbSNP Id: rs763390370
• ExAC: 11:20622980 G / T
• gnomAD v2: 11-20622980-G-T
• gnomAD v3: 11-20601434-G-T
• gnomAD v4: 11-20601434-G-T
• MyVariant Identifiers: chr11:g.20622980G>T (hg19) ; chr11:g.20601434G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20601434G>T , CM000673.2:g.20601434G>T	GRCh38
NC_000011.9:g.20622980G>T , CM000673.1:g.20622980G>T	GRCh37
NC_000011.8:g.20579556G>T	NCBI36
NG_013086.1:g.7035G>T
NG_013086.2:g.7035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.309G>T MANE Select	ENSP00000434364.2:p.Ala103=
ENST00000298923.11:c.309G>T	ENSP00000298923.7:p.Ala103=
ENST00000525748.5:c.309G>T	ENSP00000434364.1:p.Ala103=
NM_004211.3:c.309G>T	NP_004202.2:p.Ala103=
XM_005253225.1:c.-255G>T	XP_005253282.1:n.-255G>T
XM_011520473.1:c.309G>T	XP_011518775.1:p.Ala103=
NM_001318369.1:c.-255G>T	NP_001305298.1:n.-255G>T
NM_004211.4:c.309G>T	NP_004202.3:p.Ala103=
XM_017018545.2:c.-57+1759G>T	XP_016874034.1:n.-57+1759G>T
NM_001318369.2:c.-255G>T	NP_001305298.1:n.-255G>T
NM_004211.5:c.309G>T MANE Select	NP_004202.4:p.Ala103=