Canonical Allele Identifier: CA223626055

Gene: SLC22A8

Linked Data

• dbSNP Id: rs1000941300
• gnomAD v2: 11-62766672-A-T
• gnomAD v3: 11-62999200-A-T
• gnomAD v4: 11-62999200-A-T
• MyVariant Identifiers: chr11:g.62766672A>T (hg19) ; chr11:g.62999200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62999200A>T , CM000673.2:g.62999200A>T	GRCh38
NC_000011.9:g.62766672A>T , CM000673.1:g.62766672A>T	GRCh37
NC_000011.8:g.62523248A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.593-111T>A MANE Select	ENSP00000337335.2:n.593-111T>A
ENST00000311438.12:c.593-111T>A	ENSP00000311463.8:n.593-111T>A
ENST00000336232.6:c.593-111T>A	ENSP00000337335.2:n.593-111T>A
ENST00000430500.6:c.593-111T>A	ENSP00000398548.2:n.593-111T>A
ENST00000535878.5:c.224-111T>A	ENSP00000443368.1:n.224-111T>A
ENST00000539841.1:n.300T>A
ENST00000542795.5:n.314-111T>A
ENST00000542904.1:n.433-111T>A
ENST00000545207.5:c.320-111T>A	ENSP00000441658.1:n.320-111T>A
NM_001184732.1:c.593-111T>A	NP_001171661.1:n.593-111T>A
NM_001184733.1:c.320-111T>A	NP_001171662.1:n.320-111T>A
NM_001184736.1:c.224-111T>A	NP_001171665.1:n.224-111T>A
NM_004254.3:c.593-111T>A	NP_004245.2:n.593-111T>A
XM_011545364.1:c.224-111T>A	XP_011543666.1:n.224-111T>A
NM_004254.4:c.593-111T>A MANE Select	NP_004245.2:n.593-111T>A
NM_001184732.2:c.593-111T>A	NP_001171661.1:n.593-111T>A
NM_001184733.2:c.320-111T>A	NP_001171662.1:n.320-111T>A
NM_001184736.2:c.224-111T>A	NP_001171665.1:n.224-111T>A