Canonical Allele Identifier: CA5817156

Gene: H19 MRPL23

Linked Data

• ClinVar Variation Id: 3051583
• ClinVar RCV Id: RCV003959542
• dbSNP Id: rs72556551
• ExAC: 11:2016667 C / T
• gnomAD v2: 11-2016667-C-T
• gnomAD v4: 11-1995437-C-T
• MyVariant Identifiers: chr11:g.2016667C>T (hg19) ; chr11:g.1995437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1995437C>T , CM000673.2:g.1995437C>T	GRCh38
NC_000011.9:g.2016667C>T , CM000673.1:g.2016667C>T	GRCh37
NC_000011.8:g.1973243C>T	NCBI36
NG_016165.1:g.7399G>A
NG_045220.1:g.8030C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001293171.2:c.241C>T	NP_001280100.1:p.Leu81Phe
NR_002196.2:n.2087G>A (H19)
NR_131223.1:n.2081G>A (H19)
NR_131224.1:n.978G>A (H19)
XM_011520273.1:c.498-16104C>T (MRPL23)	XP_011518575.1:n.498-16104C>T
XM_011520274.1:c.492-16104C>T (MRPL23)	XP_011518576.1:n.492-16104C>T
XM_011520275.1:c.498-16104C>T (MRPL23)	XP_011518577.1:n.498-16104C>T
XM_011520275.2:c.498-16104C>T (MRPL23)	XP_011518577.1:n.498-16104C>T
NM_001400176.1:c.498-16104C>T (MRPL23)	NP_001387105.1:n.498-16104C>T