Canonical Allele Identifier: CA2614035480

Gene: SLC22A8

Linked Data

• gnomAD v4: 11-62998874-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62998874G>C , CM000673.2:g.62998874G>C	GRCh38
NC_000011.9:g.62766346G>C , CM000673.1:g.62766346G>C	GRCh37
NC_000011.8:g.62522922G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336232.7:c.761+47C>G MANE Select	ENSP00000337335.2:n.761+47C>G
ENST00000311438.12:c.761+47C>G	ENSP00000311463.8:n.761+47C>G
ENST00000336232.6:c.761+47C>G	ENSP00000337335.2:n.761+47C>G
ENST00000430500.6:c.761+47C>G	ENSP00000398548.2:n.761+47C>G
ENST00000535878.5:c.392+47C>G	ENSP00000443368.1:n.392+47C>G
ENST00000539841.1:n.579+47C>G
ENST00000542795.5:n.482+47C>G
ENST00000542904.1:n.601+47C>G
ENST00000545207.5:c.488+47C>G	ENSP00000441658.1:n.488+47C>G
NM_001184732.1:c.761+47C>G	NP_001171661.1:n.761+47C>G
NM_001184733.1:c.488+47C>G	NP_001171662.1:n.488+47C>G
NM_001184736.1:c.392+47C>G	NP_001171665.1:n.392+47C>G
NM_004254.3:c.761+47C>G	NP_004245.2:n.761+47C>G
XM_011545364.1:c.392+47C>G	XP_011543666.1:n.392+47C>G
NM_004254.4:c.761+47C>G MANE Select	NP_004245.2:n.761+47C>G
NM_001184732.2:c.761+47C>G	NP_001171661.1:n.761+47C>G
NM_001184733.2:c.488+47C>G	NP_001171662.1:n.488+47C>G
NM_001184736.2:c.392+47C>G	NP_001171665.1:n.392+47C>G