Canonical Allele Identifier: CA6059814

Gene: SLC22A8

Linked Data

• dbSNP Id: rs765216142
• ExAC: 11:62763506 A / G
• gnomAD v2: 11-62763506-A-G
• gnomAD v3: 11-62996034-A-G
• gnomAD v4: 11-62996034-A-G
• MyVariant Identifiers: chr11:g.62763506A>G (hg19) ; chr11:g.62996034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62996034A>G , CM000673.2:g.62996034A>G	GRCh38
NC_000011.9:g.62763506A>G , CM000673.1:g.62763506A>G	GRCh37
NC_000011.8:g.62520082A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.880T>C MANE Select	ENSP00000337335.2:p.Leu294=
ENST00000311438.12:c.880T>C	ENSP00000311463.8:p.Leu294=
ENST00000336232.6:c.880T>C	ENSP00000337335.2:p.Leu294=
ENST00000430500.6:c.880T>C	ENSP00000398548.2:p.Leu294=
ENST00000535878.5:c.511T>C	ENSP00000443368.1:p.Leu171=
ENST00000539841.1:n.698T>C
ENST00000545207.5:c.607T>C	ENSP00000441658.1:p.Leu203=
NM_001184732.1:c.880T>C	NP_001171661.1:p.Leu294=
NM_001184733.1:c.607T>C	NP_001171662.1:p.Leu203=
NM_001184736.1:c.511T>C	NP_001171665.1:p.Leu171=
NM_004254.3:c.880T>C	NP_004245.2:p.Leu294=
XM_011545364.1:c.511T>C	XP_011543666.1:p.Leu171=
NM_004254.4:c.880T>C MANE Select	NP_004245.2:p.Leu294=
NM_001184732.2:c.880T>C	NP_001171661.1:p.Leu294=
NM_001184733.2:c.607T>C	NP_001171662.1:p.Leu203=
NM_001184736.2:c.511T>C	NP_001171665.1:p.Leu171=