Canonical Allele Identifier: CA473531365

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1852474250
• gnomAD v3: 11-20601440-C-T
• gnomAD v4: 11-20601440-C-T
• MyVariant Identifiers: chr11:g.20622986C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20601440C>T , CM000673.2:g.20601440C>T	GRCh38
NC_000011.9:g.20622986C>T , CM000673.1:g.20622986C>T	GRCh37
NC_000011.8:g.20579562C>T	NCBI36
NG_013086.1:g.7041C>T
NG_013086.2:g.7041C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.315C>T MANE Select	ENSP00000434364.2:p.Ala105=
ENST00000298923.11:c.315C>T	ENSP00000298923.7:p.Ala105=
ENST00000525748.5:c.315C>T	ENSP00000434364.1:p.Ala105=
NM_004211.3:c.315C>T	NP_004202.2:p.Ala105=
XM_005253225.1:c.-249C>T	XP_005253282.1:n.-249C>T
XM_011520473.1:c.315C>T	XP_011518775.1:p.Ala105=
NM_001318369.1:c.-249C>T	NP_001305298.1:n.-249C>T
NM_004211.4:c.315C>T	NP_004202.3:p.Ala105=
XM_017018545.2:c.-57+1765C>T	XP_016874034.1:n.-57+1765C>T
NM_001318369.2:c.-249C>T	NP_001305298.1:n.-249C>T
NM_004211.5:c.315C>T MANE Select	NP_004202.4:p.Ala105=