Canonical Allele Identifier: CA305205618
Community Standard Title: NM_015956.3(MRPL4):c.401G>C (p.Gly134Ala)
Gene: MRPL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10256781G>C , CM000681.2:g.10256781G>C GRCh38
NC_000019.9:g.10367457G>C , CM000681.1:g.10367457G>C GRCh37
NC_000019.8:g.10228457G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015956.3:c.401G>C MANE Select NP_057040.2:p.Gly134Ala
ENST00000253099.11:c.401G>C MANE Select ENSP00000253099.5:p.Gly134Ala
NM_015956.2:c.401G>C NP_057040.2:p.Gly134Ala
NM_146387.1:c.401G>C NP_666499.1:p.Gly134Ala
NM_146387.2:c.401G>C NP_666499.1:p.Gly134Ala
NM_146388.1:c.401G>C NP_666500.1:p.Gly134Ala
NM_146388.2:c.401G>C NP_666500.1:p.Gly134Ala
ENST00000253099.10:c.401G>C ENSP00000253099.5:p.Gly134Ala
ENST00000307422.9:c.401G>C ENSP00000306902.5:p.Gly134Ala
ENST00000393733.6:c.401G>C ENSP00000377334.2:p.Gly134Ala
ENST00000588502.5:c.398G>C ENSP00000466169.1:p.Gly133Ala
ENST00000590150.5:c.434G>C ENSP00000466050.1:p.Gly145Ala
ENST00000590669.5:c.401G>C ENSP00000465143.1:p.Gly134Ala
ENST00000590702.1:c.95G>C ENSP00000465050.1:p.Gly32Ala
ENST00000591054.5:c.328-1441G>C ENSP00000465635.1:n.328-1441G>C
ENST00000592514.5:c.401G>C ENSP00000468569.1:p.Gly134Ala
XM_011528045.1:c.401G>C XP_011526347.1:p.Gly134Ala
XM_011528045.3:c.401G>C XP_011526347.1:p.Gly134Ala