Canonical Allele Identifier: CA9985833
Community Standard Title: NM_017446.4(MRPL39):c.921+5G>A
Gene: MRPL39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25592807C>T , CM000683.2:g.25592807C>T GRCh38
NC_000021.8:g.26965119C>T , CM000683.1:g.26965119C>T GRCh37
NC_000021.7:g.25886990C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017446.4:c.921+5G>A MANE Select NP_059142.3:n.921+5G>A
ENST00000352957.9:c.921+5G>A MANE Select ENSP00000284967.7:n.921+5G>A
NM_017446.3:c.921+5G>A NP_059142.2:n.921+5G>A
NM_080794.3:c.921+5G>A NP_542984.2:n.921+5G>A
NM_080794.4:c.921+5G>A NP_542984.3:n.921+5G>A
ENST00000307301.11:c.921+5G>A ENSP00000305682.7:n.921+5G>A
ENST00000352957.8:c.921+5G>A ENSP00000284967.6:n.921+5G>A
XM_006724026.2:c.921+5G>A XP_006724089.1:n.921+5G>A
XM_006724026.4:c.921+5G>A XP_006724089.1:n.921+5G>A
XM_011529651.1:c.795+5G>A XP_011527953.1:n.795+5G>A
XM_011529651.2:c.795+5G>A XP_011527953.1:n.795+5G>A