Canonical Allele Identifier: CA13384840
Gene: SLC22A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64566642C>T , CM000673.2:g.64566642C>T GRCh38
NC_000011.9:g.64334114C>T , CM000673.1:g.64334114C>T GRCh37
NC_000011.8:g.64090690C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301891.9:c.1059-957C>T MANE Select ENSP00000301891.4:n.1059-957C>T
ENST00000301891.8:c.1059-957C>T ENSP00000301891.4:n.1059-957C>T
ENST00000377581.7:c.1059-957C>T ENSP00000366804.3:n.1059-957C>T
ENST00000377585.7:c.1058+1305C>T ENSP00000366809.3:n.1058+1305C>T
ENST00000460745.1:n.1788C>T
NM_001307985.1:c.1058+1305C>T NP_001294914.1:n.1058+1305C>T
NM_018484.2:c.1059-957C>T NP_060954.1:n.1059-957C>T
NM_018484.3:c.1059-957C>T NP_060954.1:n.1059-957C>T
XM_011545167.1:c.660-957C>T XP_011543469.1:n.660-957C>T
NM_001307985.2:c.1058+1305C>T NP_001294914.1:n.1058+1305C>T
NM_018484.4:c.1059-957C>T MANE Select NP_060954.1:n.1059-957C>T