Canonical Allele Identifier: CA2616863
Gene: MRPL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374558
ClinVar RCV Id: RCV000416046
dbSNP Id: rs148679749
ExAC: 3:131181683 C / T
gnomAD v2: 3-131181683-C-T
gnomAD v3: 3-131462839-C-T
gnomAD v4: 3-131462839-C-T
MyVariant Identifiers: chr3:g.131181683C>T (hg19) chr3:g.131462839C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.131462839C>T , CM000665.2:g.131462839C>T GRCh38
NC_000003.11:g.131181683C>T , CM000665.1:g.131181683C>T GRCh37
NC_000003.10:g.132664373C>T NCBI36
NG_029207.1:g.45178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264995.8:c.931G>A MANE Select ENSP00000264995.2:p.Gly311Ser
ENST00000264995.7:c.931G>A ENSP00000264995.2:p.Gly311Ser
ENST00000425847.6:c.1012G>A ENSP00000398536.2:p.Gly338Ser
ENST00000510043.1:n.355G>A
ENST00000511168.5:c.974G>A
NM_007208.3:c.931G>A NP_009139.1:p.Gly311Ser
NM_007208.4:c.931G>A MANE Select NP_009139.1:p.Gly311Ser
Search 100 bp 5'
Search 100 bp 3'