Canonical Allele Identifier: CA292136

Gene: MRPL44

Linked Data

• ClinVar Variation Id: 138247
• ClinVar RCV Id: RCV000126803 ; RCV001512468 ; RCV002492478
• dbSNP Id: rs58911111
• ExAC: 2:224828669 C / T
• gnomAD v2: 2-224828669-C-T
• gnomAD v3: 2-223963952-C-T
• gnomAD v4: 2-223963952-C-T
• MyVariant Identifiers: chr2:g.224828669C>T (hg19) ; chr2:g.223963952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223963952C>T , CM000664.2:g.223963952C>T	GRCh38
NC_000002.11:g.224828669C>T , CM000664.1:g.224828669C>T	GRCh37
NC_000002.10:g.224536913C>T	NCBI36
NG_050679.1:g.18063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258383.4:c.827+18C>T MANE Select	ENSP00000258383.3:n.827+18C>T
ENST00000258383.3:c.827+18C>T	ENSP00000258383.3:n.827+18C>T
NM_022915.3:c.827+18C>T	NP_075066.1:n.827+18C>T
XM_011511668.1:c.785+18C>T	XP_011509970.1:n.785+18C>T
XM_011511668.2:c.785+18C>T	XP_011509970.1:n.785+18C>T
NM_022915.4:c.827+18C>T	NP_075066.1:n.827+18C>T
NM_022915.5:c.827+18C>T MANE Select	NP_075066.1:n.827+18C>T