Canonical Allele Identifier: CA216219938

Gene: H19 MRPL23

Linked Data

• dbSNP Id: rs561694716
• gnomAD v2: 11-2020618-G-T
• MyVariant Identifiers: chr11:g.2020618G>T (hg19) ; chr11:g.1999388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1999388G>T , CM000673.2:g.1999388G>T	GRCh38
NC_000011.9:g.2020618G>T , CM000673.1:g.2020618G>T	GRCh37
NC_000011.8:g.1977194G>T	NCBI36
NG_016165.1:g.3448C>A

Transcript Alleles

HGVS	Amino-acid change
NR_131224.1:n.249+1830C>A (H19)
XM_011520273.1:c.498-12153G>T (MRPL23)	XP_011518575.1:n.498-12153G>T
XM_011520274.1:c.492-12153G>T (MRPL23)	XP_011518576.1:n.492-12153G>T
XM_011520275.1:c.498-12153G>T (MRPL23)	XP_011518577.1:n.498-12153G>T
XM_011520275.2:c.498-12153G>T (MRPL23)	XP_011518577.1:n.498-12153G>T
NM_001400176.1:c.498-12153G>T (MRPL23)	NP_001387105.1:n.498-12153G>T