Canonical Allele Identifier: CA216220176

Gene: H19 MRPL23

Linked Data

• gnomAD v2: 11-2021147-A-C
• MyVariant Identifiers: chr11:g.2021147A>C (hg19) ; chr11:g.1999917A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1999917A>C , CM000673.2:g.1999917A>C	GRCh38
NC_000011.9:g.2021147A>C , CM000673.1:g.2021147A>C	GRCh37
NC_000011.8:g.1977723A>C	NCBI36
NG_016165.1:g.2919T>G

Transcript Alleles

HGVS	Amino-acid change
NR_131224.1:n.249+1301T>G (H19)
XM_011520273.1:c.498-11624A>C (MRPL23)	XP_011518575.1:n.498-11624A>C
XM_011520274.1:c.492-11624A>C (MRPL23)	XP_011518576.1:n.492-11624A>C
XM_011520275.1:c.498-11624A>C (MRPL23)	XP_011518577.1:n.498-11624A>C
XM_011520275.2:c.498-11624A>C (MRPL23)	XP_011518577.1:n.498-11624A>C
NM_001400176.1:c.498-11624A>C (MRPL23)	NP_001387105.1:n.498-11624A>C