Canonical Allele Identifier: CA597072546

Linked Data

gnomAD v2: 11-2020786-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1999556A>T , CM000673.2:g.1999556A>T GRCh38
NC_000011.9:g.2020786A>T , CM000673.1:g.2020786A>T GRCh37
NC_000011.8:g.1977362A>T NCBI36
NG_016165.1:g.3280T>A

Transcript Alleles

HGVS Amino-acid Change
NR_131224.1:n.249+1662T>A (H19)
XM_011520273.1:c.498-11985A>T (MRPL23) XP_011518575.1:n.498-11985A>T
XM_011520274.1:c.492-11985A>T (MRPL23) XP_011518576.1:n.492-11985A>T
XM_011520275.1:c.498-11985A>T (MRPL23) XP_011518577.1:n.498-11985A>T
XM_011520275.2:c.498-11985A>T (MRPL23) XP_011518577.1:n.498-11985A>T
NM_001400176.1:c.498-11985A>T (MRPL23) NP_001387105.1:n.498-11985A>T