Canonical Allele Identifier: CA269952
Gene: H19 HGNC NCBI
MRPL23 HGNC NCBI

Linked Data

ClinVar Variation Id: 96745
ClinVar RCV Id: RCV000128482
dbSNP Id: rs431825166
MyVariant Identifiers: chr11:g.2021938T>A (hg19) chr11:g.2000708T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2000708T>A , CM000673.2:g.2000708T>A GRCh38
NC_000011.9:g.2021938T>A , CM000673.1:g.2021938T>A GRCh37
NC_000011.8:g.1978514T>A NCBI36
NG_016165.1:g.2128A>T

Transcript Alleles

HGVS Amino-acid Change
NR_131224.1:n.249+510A>T (H19)
XM_011520273.1:c.498-10833T>A (MRPL23) XP_011518575.1:n.498-10833T>A
XM_011520274.1:c.492-10833T>A (MRPL23) XP_011518576.1:n.492-10833T>A
XM_011520275.1:c.498-10833T>A (MRPL23) XP_011518577.1:n.498-10833T>A
XM_011520275.2:c.498-10833T>A (MRPL23) XP_011518577.1:n.498-10833T>A
NM_001400176.1:c.498-10833T>A (MRPL23) NP_001387105.1:n.498-10833T>A
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