Canonical Allele Identifier: CA216219866

Gene: H19 MRPL23

Linked Data

• dbSNP Id: rs371736340
• gnomAD v2: 11-2020556-C-T
• MyVariant Identifiers: chr11:g.2020556C>T (hg19) ; chr11:g.1999326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1999326C>T , CM000673.2:g.1999326C>T	GRCh38
NC_000011.9:g.2020556C>T , CM000673.1:g.2020556C>T	GRCh37
NC_000011.8:g.1977132C>T	NCBI36
NG_016165.1:g.3510G>A

Transcript Alleles

HGVS	Amino-acid change
NR_131224.1:n.249+1892G>A (H19)
XM_011520273.1:c.498-12215C>T (MRPL23)	XP_011518575.1:n.498-12215C>T
XM_011520274.1:c.492-12215C>T (MRPL23)	XP_011518576.1:n.492-12215C>T
XM_011520275.1:c.498-12215C>T (MRPL23)	XP_011518577.1:n.498-12215C>T
XM_011520275.2:c.498-12215C>T (MRPL23)	XP_011518577.1:n.498-12215C>T
NM_001400176.1:c.498-12215C>T (MRPL23)	NP_001387105.1:n.498-12215C>T