Canonical Allele Identifier: CA13370105

Linked Data

dbSNP Id: rs2107425
gnomAD v2: 11-2021075-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1999845C>T , CM000673.2:g.1999845C>T GRCh38
NC_000011.9:g.2021075C>T , CM000673.1:g.2021075C>T GRCh37
NC_000011.8:g.1977651C>T NCBI36
NG_016165.1:g.2991G>A

Transcript Alleles

HGVS Amino-acid change
NR_131224.1:n.249+1373G>A (H19)
XM_011520273.1:c.498-11696C>T (MRPL23) XP_011518575.1:n.498-11696C>T
XM_011520274.1:c.492-11696C>T (MRPL23) XP_011518576.1:n.492-11696C>T
XM_011520275.1:c.498-11696C>T (MRPL23) XP_011518577.1:n.498-11696C>T
XM_011520275.2:c.498-11696C>T (MRPL23) XP_011518577.1:n.498-11696C>T
NM_001400176.1:c.498-11696C>T (MRPL23) NP_001387105.1:n.498-11696C>T