Canonical Allele Identifier: CA6059778

Gene: SLC22A8

Linked Data

• dbSNP Id: rs962401342
• ExAC: 11:62763310 G / C
• gnomAD v2: 11-62763310-G-C
• gnomAD v3: 11-62995838-G-C
• gnomAD v4: 11-62995838-G-C
• MyVariant Identifiers: chr11:g.62763310G>C (hg19) ; chr11:g.62763310_62763311delinsCA (hg19) ; chr11:g.62995838G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62995838G>C , CM000673.2:g.62995838G>C	GRCh38
NC_000011.9:g.62763310G>C , CM000673.1:g.62763310G>C	GRCh37
NC_000011.8:g.62519886G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.886-19C>G MANE Select	ENSP00000337335.2:n.886-19C>G
ENST00000311438.12:c.886-19C>G	ENSP00000311463.8:n.886-19C>G
ENST00000336232.6:c.886-19C>G	ENSP00000337335.2:n.886-19C>G
ENST00000430500.6:c.886-19C>G	ENSP00000398548.2:n.886-19C>G
ENST00000535878.5:c.517-19C>G	ENSP00000443368.1:n.517-19C>G
ENST00000539841.1:n.894C>G
ENST00000545207.5:c.613-19C>G	ENSP00000441658.1:n.613-19C>G
NM_001184732.1:c.886-19C>G	NP_001171661.1:n.886-19C>G
NM_001184733.1:c.613-19C>G	NP_001171662.1:n.613-19C>G
NM_001184736.1:c.517-19C>G	NP_001171665.1:n.517-19C>G
NM_004254.3:c.886-19C>G	NP_004245.2:n.886-19C>G
XM_011545364.1:c.517-19C>G	XP_011543666.1:n.517-19C>G
NM_004254.4:c.886-19C>G MANE Select	NP_004245.2:n.886-19C>G
NM_001184732.2:c.886-19C>G	NP_001171661.1:n.886-19C>G
NM_001184733.2:c.613-19C>G	NP_001171662.1:n.613-19C>G
NM_001184736.2:c.517-19C>G	NP_001171665.1:n.517-19C>G