Canonical Allele Identifier: CA475140513

Gene: SLC22A8

Linked Data

• MyVariant Identifiers: chr11:g.62763187A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62995715A>C , CM000673.2:g.62995715A>C	GRCh38
NC_000011.9:g.62763187A>C , CM000673.1:g.62763187A>C	GRCh37
NC_000011.8:g.62519763A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336232.7:c.990T>G MANE Select	ENSP00000337335.2:p.Leu330=
ENST00000311438.12:c.990T>G	ENSP00000311463.8:p.Leu330=
ENST00000336232.6:c.990T>G	ENSP00000337335.2:p.Leu330=
ENST00000430500.6:c.990T>G	ENSP00000398548.2:p.Leu330=
ENST00000535878.5:c.621T>G	ENSP00000443368.1:p.Leu207=
ENST00000539841.1:n.1017T>G
ENST00000545207.5:c.717T>G	ENSP00000441658.1:p.Leu239=
NM_001184732.1:c.990T>G	NP_001171661.1:p.Leu330=
NM_001184733.1:c.717T>G	NP_001171662.1:p.Leu239=
NM_001184736.1:c.621T>G	NP_001171665.1:p.Leu207=
NM_004254.3:c.990T>G	NP_004245.2:p.Leu330=
XM_011545364.1:c.621T>G	XP_011543666.1:p.Leu207=
NM_004254.4:c.990T>G MANE Select	NP_004245.2:p.Leu330=
NM_001184732.2:c.990T>G	NP_001171661.1:p.Leu330=
NM_001184733.2:c.717T>G	NP_001171662.1:p.Leu239=
NM_001184736.2:c.621T>G	NP_001171665.1:p.Leu207=