Canonical Allele Identifier: CA1978016257

Gene: SLC22A8

Linked Data

• dbSNP Id: rs2086461948
• gnomAD v4: 11-62999222-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62999222T>C , CM000673.2:g.62999222T>C	GRCh38
NC_000011.9:g.62766694T>C , CM000673.1:g.62766694T>C	GRCh37
NC_000011.8:g.62523270T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.593-133A>G MANE Select	ENSP00000337335.2:n.593-133A>G
ENST00000311438.12:c.593-133A>G	ENSP00000311463.8:n.593-133A>G
ENST00000336232.6:c.593-133A>G	ENSP00000337335.2:n.593-133A>G
ENST00000430500.6:c.593-133A>G	ENSP00000398548.2:n.593-133A>G
ENST00000535878.5:c.224-133A>G	ENSP00000443368.1:n.224-133A>G
ENST00000539841.1:n.278A>G
ENST00000542795.5:n.314-133A>G
ENST00000542904.1:n.433-133A>G
ENST00000545207.5:c.320-133A>G	ENSP00000441658.1:n.320-133A>G
NM_001184732.1:c.593-133A>G	NP_001171661.1:n.593-133A>G
NM_001184733.1:c.320-133A>G	NP_001171662.1:n.320-133A>G
NM_001184736.1:c.224-133A>G	NP_001171665.1:n.224-133A>G
NM_004254.3:c.593-133A>G	NP_004245.2:n.593-133A>G
XM_011545364.1:c.224-133A>G	XP_011543666.1:n.224-133A>G
NM_004254.4:c.593-133A>G MANE Select	NP_004245.2:n.593-133A>G
NM_001184732.2:c.593-133A>G	NP_001171661.1:n.593-133A>G
NM_001184733.2:c.320-133A>G	NP_001171662.1:n.320-133A>G
NM_001184736.2:c.224-133A>G	NP_001171665.1:n.224-133A>G