Canonical Allele Identifier: CA597072531

Gene: H19 MRPL23

Linked Data

• gnomAD v2: 11-2020598-G-A
• MyVariant Identifiers: chr11:g.2020598G>A (hg19) ; chr11:g.1999368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1999368G>A , CM000673.2:g.1999368G>A	GRCh38
NC_000011.9:g.2020598G>A , CM000673.1:g.2020598G>A	GRCh37
NC_000011.8:g.1977174G>A	NCBI36
NG_016165.1:g.3468C>T

Transcript Alleles

HGVS	Amino-acid change
NR_131224.1:n.249+1850C>T (H19)
XM_011520273.1:c.498-12173G>A (MRPL23)	XP_011518575.1:n.498-12173G>A
XM_011520274.1:c.492-12173G>A (MRPL23)	XP_011518576.1:n.492-12173G>A
XM_011520275.1:c.498-12173G>A (MRPL23)	XP_011518577.1:n.498-12173G>A
XM_011520275.2:c.498-12173G>A (MRPL23)	XP_011518577.1:n.498-12173G>A
NM_001400176.1:c.498-12173G>A (MRPL23)	NP_001387105.1:n.498-12173G>A