Canonical Allele Identifier: CA674398913

Gene: MRPL23

Linked Data

• dbSNP Id: rs1169373335
• gnomAD v3: 11-1963929-G-A
• gnomAD v4: 11-1963929-G-A
• MyVariant Identifiers: chr11:g.1985159G>A (hg19) ; chr11:g.1963929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1963929G>A , CM000673.2:g.1963929G>A	GRCh38
NC_000011.9:g.1985159G>A , CM000673.1:g.1985159G>A	GRCh37
NC_000011.8:g.1941735G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000397294.7:c.298-8630G>A	ENSP00000380462.3:n.298-8630G>A
ENST00000397297.7:c.298-8630G>A	ENSP00000380465.3:n.298-8630G>A
XM_011520273.1:c.298-8630G>A	XP_011518575.1:n.298-8630G>A
XM_011520274.1:c.292-8630G>A	XP_011518576.1:n.292-8630G>A
XM_011520275.1:c.298-8630G>A	XP_011518577.1:n.298-8630G>A
XM_011520276.1:c.298-8630G>A	XP_011518578.1:n.298-8630G>A
XM_011520275.2:c.298-8630G>A	XP_011518577.1:n.298-8630G>A
XM_011520276.3:c.298-8630G>A	XP_011518578.1:n.298-8630G>A
NM_001400176.1:c.298-8630G>A	NP_001387105.1:n.298-8630G>A
NM_001400179.1:c.298-8630G>A	NP_001387108.1:n.298-8630G>A