Canonical Allele Identifier: CA380983924

Gene: SLC22A8

Linked Data

• gnomAD v4: 11-62998969-A-C
• MyVariant Identifiers: chr11:g.62766441A>C (hg19) ; chr11:g.62998969A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62998969A>C , CM000673.2:g.62998969A>C	GRCh38
NC_000011.9:g.62766441A>C , CM000673.1:g.62766441A>C	GRCh37
NC_000011.8:g.62523017A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336232.7:c.713T>G MANE Select	ENSP00000337335.2:p.Leu238Arg
ENST00000311438.12:c.713T>G	ENSP00000311463.8:p.Leu238Arg
ENST00000336232.6:c.713T>G	ENSP00000337335.2:p.Leu238Arg
ENST00000430500.6:c.713T>G	ENSP00000398548.2:p.Leu238Arg
ENST00000535878.5:c.344T>G	ENSP00000443368.1:p.Leu115Arg
ENST00000539841.1:n.531T>G
ENST00000542795.5:n.434T>G
ENST00000542904.1:n.553T>G
ENST00000545207.5:c.440T>G	ENSP00000441658.1:p.Leu147Arg
NM_001184732.1:c.713T>G	NP_001171661.1:p.Leu238Arg
NM_001184733.1:c.440T>G	NP_001171662.1:p.Leu147Arg
NM_001184736.1:c.344T>G	NP_001171665.1:p.Leu115Arg
NM_004254.3:c.713T>G	NP_004245.2:p.Leu238Arg
XM_011545364.1:c.344T>G	XP_011543666.1:p.Leu115Arg
NM_004254.4:c.713T>G MANE Select	NP_004245.2:p.Leu238Arg
NM_001184732.2:c.713T>G	NP_001171661.1:p.Leu238Arg
NM_001184733.2:c.440T>G	NP_001171662.1:p.Leu147Arg
NM_001184736.2:c.344T>G	NP_001171665.1:p.Leu115Arg