Canonical Allele Identifier: CA379918578

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1853251533
• MyVariant Identifiers: chr11:g.20660014T>C (hg19) ; chr11:g.20638468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638468T>C , CM000673.2:g.20638468T>C	GRCh38
NC_000011.9:g.20660014T>C , CM000673.1:g.20660014T>C	GRCh37
NC_000011.8:g.20616590T>C	NCBI36
NG_013086.1:g.44069T>C
NG_013086.2:g.44069T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1879T>C MANE Select	ENSP00000434364.2:p.Tyr627His
ENST00000298923.11:c.*1176T>C	ENSP00000298923.7:n.*1176T>C
ENST00000525748.5:c.1879T>C	ENSP00000434364.1:p.Tyr627His
ENST00000528440.1:n.410T>C
NM_004211.3:c.1879T>C	NP_004202.2:p.Tyr627His
XM_005253225.1:c.1177T>C	XP_005253282.1:p.Tyr393His
XM_011520473.1:c.1879T>C	XP_011518775.1:p.Tyr627His
NM_001318369.1:c.1177T>C	NP_001305298.1:p.Tyr393His
NM_004211.4:c.1879T>C	NP_004202.3:p.Tyr627His
XM_017018544.2:c.1003T>C	XP_016874033.1:p.Tyr335His
XM_017018545.2:c.838T>C	XP_016874034.1:p.Tyr280His
NM_001318369.2:c.1177T>C	NP_001305298.1:p.Tyr393His
NM_004211.5:c.1879T>C MANE Select	NP_004202.4:p.Tyr627His