Canonical Allele Identifier: CA1978013060

Gene: SLC22A8

Linked Data

• dbSNP Id: rs1590688926
• gnomAD v4: 11-62995940-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62995940T>G , CM000673.2:g.62995940T>G	GRCh38
NC_000011.9:g.62763412T>G , CM000673.1:g.62763412T>G	GRCh37
NC_000011.8:g.62519988T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.885+89A>C MANE Select	ENSP00000337335.2:n.885+89A>C
ENST00000311438.12:c.885+89A>C	ENSP00000311463.8:n.885+89A>C
ENST00000336232.6:c.885+89A>C	ENSP00000337335.2:n.885+89A>C
ENST00000430500.6:c.885+89A>C	ENSP00000398548.2:n.885+89A>C
ENST00000535878.5:c.516+89A>C	ENSP00000443368.1:n.516+89A>C
ENST00000539841.1:n.792A>C
ENST00000545207.5:c.612+89A>C	ENSP00000441658.1:n.612+89A>C
NM_001184732.1:c.885+89A>C	NP_001171661.1:n.885+89A>C
NM_001184733.1:c.612+89A>C	NP_001171662.1:n.612+89A>C
NM_001184736.1:c.516+89A>C	NP_001171665.1:n.516+89A>C
NM_004254.3:c.885+89A>C	NP_004245.2:n.885+89A>C
XM_011545364.1:c.516+89A>C	XP_011543666.1:n.516+89A>C
NM_004254.4:c.885+89A>C MANE Select	NP_004245.2:n.885+89A>C
NM_001184732.2:c.885+89A>C	NP_001171661.1:n.885+89A>C
NM_001184733.2:c.612+89A>C	NP_001171662.1:n.612+89A>C
NM_001184736.2:c.516+89A>C	NP_001171665.1:n.516+89A>C