Canonical Allele Identifier: CA2580600163
Community Standard Title: NM_018484.4(SLC22A11):c.1059-957C>G
Gene: SLC22A11 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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