Canonical Allele Identifier: CA380983982

Gene: SLC22A8

Linked Data

• MyVariant Identifiers: chr11:g.62766452C>A (hg19) ; chr11:g.62998980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62998980C>A , CM000673.2:g.62998980C>A	GRCh38
NC_000011.9:g.62766452C>A , CM000673.1:g.62766452C>A	GRCh37
NC_000011.8:g.62523028C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336232.7:c.702G>T MANE Select	ENSP00000337335.2:p.Gln234His
ENST00000311438.12:c.702G>T	ENSP00000311463.8:p.Gln234His
ENST00000336232.6:c.702G>T	ENSP00000337335.2:p.Gln234His
ENST00000430500.6:c.702G>T	ENSP00000398548.2:p.Gln234His
ENST00000535878.5:c.333G>T	ENSP00000443368.1:p.Gln111His
ENST00000539841.1:n.520G>T
ENST00000542795.5:n.423G>T
ENST00000542904.1:n.542G>T
ENST00000545207.5:c.429G>T	ENSP00000441658.1:p.Gln143His
NM_001184732.1:c.702G>T	NP_001171661.1:p.Gln234His
NM_001184733.1:c.429G>T	NP_001171662.1:p.Gln143His
NM_001184736.1:c.333G>T	NP_001171665.1:p.Gln111His
NM_004254.3:c.702G>T	NP_004245.2:p.Gln234His
XM_011545364.1:c.333G>T	XP_011543666.1:p.Gln111His
NM_004254.4:c.702G>T MANE Select	NP_004245.2:p.Gln234His
NM_001184732.2:c.702G>T	NP_001171661.1:p.Gln234His
NM_001184733.2:c.429G>T	NP_001171662.1:p.Gln143His
NM_001184736.2:c.333G>T	NP_001171665.1:p.Gln111His