Canonical Allele Identifier: CA6059855

Gene: SLC22A8

Linked Data

• dbSNP Id: rs11568495
• ExAC: 11:62766440 C / A
• gnomAD v2: 11-62766440-C-A
• gnomAD v3: 11-62998968-C-A
• gnomAD v4: 11-62998968-C-A
• MyVariant Identifiers: chr11:g.62766440C>A (hg19) ; chr11:g.62998968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62998968C>A , CM000673.2:g.62998968C>A	GRCh38
NC_000011.9:g.62766440C>A , CM000673.1:g.62766440C>A	GRCh37
NC_000011.8:g.62523016C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336232.7:c.714G>T MANE Select	ENSP00000337335.2:p.Leu238=
ENST00000311438.12:c.714G>T	ENSP00000311463.8:p.Leu238=
ENST00000336232.6:c.714G>T	ENSP00000337335.2:p.Leu238=
ENST00000430500.6:c.714G>T	ENSP00000398548.2:p.Leu238=
ENST00000535878.5:c.345G>T	ENSP00000443368.1:p.Leu115=
ENST00000539841.1:n.532G>T
ENST00000542795.5:n.435G>T
ENST00000542904.1:n.554G>T
ENST00000545207.5:c.441G>T	ENSP00000441658.1:p.Leu147=
NM_001184732.1:c.714G>T	NP_001171661.1:p.Leu238=
NM_001184733.1:c.441G>T	NP_001171662.1:p.Leu147=
NM_001184736.1:c.345G>T	NP_001171665.1:p.Leu115=
NM_004254.3:c.714G>T	NP_004245.2:p.Leu238=
XM_011545364.1:c.345G>T	XP_011543666.1:p.Leu115=
NM_004254.4:c.714G>T MANE Select	NP_004245.2:p.Leu238=
NM_001184732.2:c.714G>T	NP_001171661.1:p.Leu238=
NM_001184733.2:c.441G>T	NP_001171662.1:p.Leu147=
NM_001184736.2:c.345G>T	NP_001171665.1:p.Leu115=