Canonical Allele Identifier: CA2139052
Gene: MRPL44 HGNC NCBI

Linked Data

ClinVar Variation Id: 1251974
ClinVar RCV Id: RCV001650515 RCV001882745
dbSNP Id: rs143697995
ExAC: 2:224824538 T / C
gnomAD v2: 2-224824538-T-C
gnomAD v3: 2-223959821-T-C
gnomAD v4: 2-223959821-T-C
MyVariant Identifiers: chr2:g.224824538T>C (hg19) chr2:g.223959821T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223959821T>C , CM000664.2:g.223959821T>C GRCh38
NC_000002.11:g.224824538T>C , CM000664.1:g.224824538T>C GRCh37
NC_000002.10:g.224532782T>C NCBI36
NG_050679.1:g.13932T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258383.4:c.467T>C MANE Select ENSP00000258383.3:p.Leu156Pro
ENST00000258383.3:c.467T>C ENSP00000258383.3:p.Leu156Pro
NM_022915.3:c.467T>C NP_075066.1:p.Leu156Pro
XM_011511668.1:c.425T>C XP_011509970.1:p.Leu142Pro
XM_011511668.2:c.425T>C XP_011509970.1:p.Leu142Pro
NM_022915.4:c.467T>C NP_075066.1:p.Leu156Pro
NM_022915.5:c.467T>C MANE Select NP_075066.1:p.Leu156Pro
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