Canonical Allele Identifier: CA6059806

Gene: SLC22A8

Linked Data

• dbSNP Id: rs774113572
• ExAC: 11:62763474 T / C
• gnomAD v2: 11-62763474-T-C
• gnomAD v4: 11-62996002-T-C
• MyVariant Identifiers: chr11:g.62763474T>C (hg19) ; chr11:g.62996002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62996002T>C , CM000673.2:g.62996002T>C	GRCh38
NC_000011.9:g.62763474T>C , CM000673.1:g.62763474T>C	GRCh37
NC_000011.8:g.62520050T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.885+27A>G MANE Select	ENSP00000337335.2:n.885+27A>G
ENST00000311438.12:c.885+27A>G	ENSP00000311463.8:n.885+27A>G
ENST00000336232.6:c.885+27A>G	ENSP00000337335.2:n.885+27A>G
ENST00000430500.6:c.885+27A>G	ENSP00000398548.2:n.885+27A>G
ENST00000535878.5:c.516+27A>G	ENSP00000443368.1:n.516+27A>G
ENST00000539841.1:n.730A>G
ENST00000545207.5:c.612+27A>G	ENSP00000441658.1:n.612+27A>G
NM_001184732.1:c.885+27A>G	NP_001171661.1:n.885+27A>G
NM_001184733.1:c.612+27A>G	NP_001171662.1:n.612+27A>G
NM_001184736.1:c.516+27A>G	NP_001171665.1:n.516+27A>G
NM_004254.3:c.885+27A>G	NP_004245.2:n.885+27A>G
XM_011545364.1:c.516+27A>G	XP_011543666.1:n.516+27A>G
NM_004254.4:c.885+27A>G MANE Select	NP_004245.2:n.885+27A>G
NM_001184732.2:c.885+27A>G	NP_001171661.1:n.885+27A>G
NM_001184733.2:c.612+27A>G	NP_001171662.1:n.612+27A>G
NM_001184736.2:c.516+27A>G	NP_001171665.1:n.516+27A>G