Canonical Allele Identifier: CA380983912

Gene: SLC22A8

Linked Data

• MyVariant Identifiers: chr11:g.62766439G>T (hg19) ; chr11:g.62998967G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62998967G>T , CM000673.2:g.62998967G>T	GRCh38
NC_000011.9:g.62766439G>T , CM000673.1:g.62766439G>T	GRCh37
NC_000011.8:g.62523015G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336232.7:c.715C>A MANE Select	ENSP00000337335.2:p.Gln239Lys
ENST00000311438.12:c.715C>A	ENSP00000311463.8:p.Gln239Lys
ENST00000336232.6:c.715C>A	ENSP00000337335.2:p.Gln239Lys
ENST00000430500.6:c.715C>A	ENSP00000398548.2:p.Gln239Lys
ENST00000535878.5:c.346C>A	ENSP00000443368.1:p.Gln116Lys
ENST00000539841.1:n.533C>A
ENST00000542795.5:n.436C>A
ENST00000542904.1:n.555C>A
ENST00000545207.5:c.442C>A	ENSP00000441658.1:p.Gln148Lys
NM_001184732.1:c.715C>A	NP_001171661.1:p.Gln239Lys
NM_001184733.1:c.442C>A	NP_001171662.1:p.Gln148Lys
NM_001184736.1:c.346C>A	NP_001171665.1:p.Gln116Lys
NM_004254.3:c.715C>A	NP_004245.2:p.Gln239Lys
XM_011545364.1:c.346C>A	XP_011543666.1:p.Gln116Lys
NM_004254.4:c.715C>A MANE Select	NP_004245.2:p.Gln239Lys
NM_001184732.2:c.715C>A	NP_001171661.1:p.Gln239Lys
NM_001184733.2:c.442C>A	NP_001171662.1:p.Gln148Lys
NM_001184736.2:c.346C>A	NP_001171665.1:p.Gln116Lys