Canonical Allele Identifier: CA472017916

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1997623G>C , CM000673.2:g.1997623G>C GRCh38
NC_000011.9:g.2018853G>C , CM000673.1:g.2018853G>C GRCh37
NC_000011.8:g.1975429G>C NCBI36
NG_016165.1:g.5213C>G
NG_045220.1:g.10216G>C

Transcript Alleles

HGVS Amino-acid Change
NR_002196.2:n.253C>G (H19)
NR_131223.1:n.253C>G (H19)
NR_131224.1:n.250-1202C>G (H19)
XM_011520273.1:c.498-13918G>C (MRPL23) XP_011518575.1:n.498-13918G>C
XM_011520274.1:c.492-13918G>C (MRPL23) XP_011518576.1:n.492-13918G>C
XM_011520275.1:c.498-13918G>C (MRPL23) XP_011518577.1:n.498-13918G>C
XM_011520275.2:c.498-13918G>C (MRPL23) XP_011518577.1:n.498-13918G>C
NM_001400176.1:c.498-13918G>C (MRPL23) NP_001387105.1:n.498-13918G>C