Canonical Allele Identifier: CA216220167

Gene: H19 MRPL23

Linked Data

• dbSNP Id: rs868030905
• gnomAD v2: 11-2021130-T-G
• MyVariant Identifiers: chr11:g.2021130T>G (hg19) ; chr11:g.1999900T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1999900T>G , CM000673.2:g.1999900T>G	GRCh38
NC_000011.9:g.2021130T>G , CM000673.1:g.2021130T>G	GRCh37
NC_000011.8:g.1977706T>G	NCBI36
NG_016165.1:g.2936A>C

Transcript Alleles

HGVS	Amino-acid change
NR_131224.1:n.249+1318A>C (H19)
XM_011520273.1:c.498-11641T>G (MRPL23)	XP_011518575.1:n.498-11641T>G
XM_011520274.1:c.492-11641T>G (MRPL23)	XP_011518576.1:n.492-11641T>G
XM_011520275.1:c.498-11641T>G (MRPL23)	XP_011518577.1:n.498-11641T>G
XM_011520275.2:c.498-11641T>G (MRPL23)	XP_011518577.1:n.498-11641T>G
NM_001400176.1:c.498-11641T>G (MRPL23)	NP_001387105.1:n.498-11641T>G