Canonical Allele Identifier: CA379918576

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20638467-T-G
• MyVariant Identifiers: chr11:g.20660013T>G (hg19) ; chr11:g.20638467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638467T>G , CM000673.2:g.20638467T>G	GRCh38
NC_000011.9:g.20660013T>G , CM000673.1:g.20660013T>G	GRCh37
NC_000011.8:g.20616589T>G	NCBI36
NG_013086.1:g.44068T>G
NG_013086.2:g.44068T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1878T>G MANE Select	ENSP00000434364.2:p.Ile626Met
ENST00000298923.11:c.*1175T>G	ENSP00000298923.7:n.*1175T>G
ENST00000525748.5:c.1878T>G	ENSP00000434364.1:p.Ile626Met
ENST00000528440.1:n.409T>G
NM_004211.3:c.1878T>G	NP_004202.2:p.Ile626Met
XM_005253225.1:c.1176T>G	XP_005253282.1:p.Ile392Met
XM_011520473.1:c.1878T>G	XP_011518775.1:p.Ile626Met
NM_001318369.1:c.1176T>G	NP_001305298.1:p.Ile392Met
NM_004211.4:c.1878T>G	NP_004202.3:p.Ile626Met
XM_017018544.2:c.1002T>G	XP_016874033.1:p.Ile334Met
XM_017018545.2:c.837T>G	XP_016874034.1:p.Ile279Met
NM_001318369.2:c.1176T>G	NP_001305298.1:p.Ile392Met
NM_004211.5:c.1878T>G MANE Select	NP_004202.4:p.Ile626Met