Canonical Allele Identifier: CA597072875

Linked Data

gnomAD v2: 11-2021172-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1999942C>G , CM000673.2:g.1999942C>G GRCh38
NC_000011.9:g.2021172C>G , CM000673.1:g.2021172C>G GRCh37
NC_000011.8:g.1977748C>G NCBI36
NG_016165.1:g.2894G>C

Transcript Alleles

HGVS Amino-acid Change
NR_131224.1:n.249+1276G>C (H19)
XM_011520273.1:c.498-11599C>G (MRPL23) XP_011518575.1:n.498-11599C>G
XM_011520274.1:c.492-11599C>G (MRPL23) XP_011518576.1:n.492-11599C>G
XM_011520275.1:c.498-11599C>G (MRPL23) XP_011518577.1:n.498-11599C>G
XM_011520275.2:c.498-11599C>G (MRPL23) XP_011518577.1:n.498-11599C>G
NM_001400176.1:c.498-11599C>G (MRPL23) NP_001387105.1:n.498-11599C>G