Canonical Allele Identifier: CA475140790
Gene: SLC22A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.62763510G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62996038G>C , CM000673.2:g.62996038G>C GRCh38
NC_000011.9:g.62763510G>C , CM000673.1:g.62763510G>C GRCh37
NC_000011.8:g.62520086G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.876C>G MANE Select ENSP00000337335.2:p.Leu292=
ENST00000311438.12:c.876C>G ENSP00000311463.8:p.Leu292=
ENST00000336232.6:c.876C>G ENSP00000337335.2:p.Leu292=
ENST00000430500.6:c.876C>G ENSP00000398548.2:p.Leu292=
ENST00000535878.5:c.507C>G ENSP00000443368.1:p.Leu169=
ENST00000539841.1:n.694C>G
ENST00000545207.5:c.603C>G ENSP00000441658.1:p.Leu201=
NM_001184732.1:c.876C>G NP_001171661.1:p.Leu292=
NM_001184733.1:c.603C>G NP_001171662.1:p.Leu201=
NM_001184736.1:c.507C>G NP_001171665.1:p.Leu169=
NM_004254.3:c.876C>G NP_004245.2:p.Leu292=
XM_011545364.1:c.507C>G XP_011543666.1:p.Leu169=
NM_004254.4:c.876C>G MANE Select NP_004245.2:p.Leu292=
NM_001184732.2:c.876C>G NP_001171661.1:p.Leu292=
NM_001184733.2:c.603C>G NP_001171662.1:p.Leu201=
NM_001184736.2:c.507C>G NP_001171665.1:p.Leu169=