Canonical Allele Identifier: CA13406043

Linked Data

dbSNP Id: rs2071095
gnomAD v2: 11-2020627-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1999397C>A , CM000673.2:g.1999397C>A GRCh38
NC_000011.9:g.2020627C>A , CM000673.1:g.2020627C>A GRCh37
NC_000011.8:g.1977203C>A NCBI36
NG_016165.1:g.3439G>T

Transcript Alleles

HGVS Amino-acid change
NR_131224.1:n.249+1821G>T (H19)
XM_011520273.1:c.498-12144C>A (MRPL23) XP_011518575.1:n.498-12144C>A
XM_011520274.1:c.492-12144C>A (MRPL23) XP_011518576.1:n.492-12144C>A
XM_011520275.1:c.498-12144C>A (MRPL23) XP_011518577.1:n.498-12144C>A
XM_011520275.2:c.498-12144C>A (MRPL23) XP_011518577.1:n.498-12144C>A
NM_001400176.1:c.498-12144C>A (MRPL23) NP_001387105.1:n.498-12144C>A