Canonical Allele Identifier: CA129386
Gene: MRPL3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.131462820G>C
GRCh37 chr3:g.131181664G>C
Revel Score:
ENST00000264995 (MANE Select) 0.763
ENST00000425847 0.763
gnomAD v2:
3:131181664 G / C
gnomAD v3:
3:131462820 G / C
gnomAD v4:
chr3-131462820-G-C
Joint Max Group AF 0.00000615 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000023618
RCV001546426
ClinVar Variation:
30643
dbSNP:
387906962
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.131462820G>C , CM000665.2:g.131462820G>C GRCh38
NC_000003.11:g.131181664G>C , CM000665.1:g.131181664G>C GRCh37
NC_000003.10:g.132664354G>C NCBI36
NG_029207.1:g.45197C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264995.8:c.950C>G MANE Select ENSP00000264995.2:p.Pro317Arg
ENST00000264995.7:c.950C>G ENSP00000264995.2:p.Pro317Arg
ENST00000425847.6:c.1031C>G ENSP00000398536.2:p.Pro344Arg
ENST00000510043.1:n.374C>G
ENST00000511168.5:c.993C>G
NM_007208.3:c.950C>G NP_009139.1:p.Pro317Arg
NM_007208.4:c.950C>G MANE Select NP_009139.1:p.Pro317Arg
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