Canonical Allele Identifier: CA475140788

Gene: SLC22A8

Linked Data

• dbSNP Id: rs1241864187
• gnomAD v2: 11-62763507-G-A
• gnomAD v4: 11-62996035-G-A
• MyVariant Identifiers: chr11:g.62763507G>A (hg19) ; chr11:g.62996035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62996035G>A , CM000673.2:g.62996035G>A	GRCh38
NC_000011.9:g.62763507G>A , CM000673.1:g.62763507G>A	GRCh37
NC_000011.8:g.62520083G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.879C>T MANE Select	ENSP00000337335.2:p.Ser293=
ENST00000311438.12:c.879C>T	ENSP00000311463.8:p.Ser293=
ENST00000336232.6:c.879C>T	ENSP00000337335.2:p.Ser293=
ENST00000430500.6:c.879C>T	ENSP00000398548.2:p.Ser293=
ENST00000535878.5:c.510C>T	ENSP00000443368.1:p.Ser170=
ENST00000539841.1:n.697C>T
ENST00000545207.5:c.606C>T	ENSP00000441658.1:p.Ser202=
NM_001184732.1:c.879C>T	NP_001171661.1:p.Ser293=
NM_001184733.1:c.606C>T	NP_001171662.1:p.Ser202=
NM_001184736.1:c.510C>T	NP_001171665.1:p.Ser170=
NM_004254.3:c.879C>T	NP_004245.2:p.Ser293=
XM_011545364.1:c.510C>T	XP_011543666.1:p.Ser170=
NM_004254.4:c.879C>T MANE Select	NP_004245.2:p.Ser293=
NM_001184732.2:c.879C>T	NP_001171661.1:p.Ser293=
NM_001184733.2:c.606C>T	NP_001171662.1:p.Ser202=
NM_001184736.2:c.510C>T	NP_001171665.1:p.Ser170=