Canonical Allele Identifier: CA7153847
Community Standard Title: NM_003136.4(SRP54):c.1328-9T>C
Gene: SRP54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.35028079T>C , CM000676.2:g.35028079T>C GRCh38
NC_000014.8:g.35497285T>C , CM000676.1:g.35497285T>C GRCh37
NC_000014.7:g.34567036T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003136.4:c.1328-9T>C MANE Select NP_003127.1:n.1328-9T>C
ENST00000216774.11:c.1328-9T>C MANE Select ENSP00000216774.6:n.1328-9T>C
NM_001146282.1:c.1181-9T>C NP_001139754.1:n.1181-9T>C
NM_001146282.2:c.1181-9T>C NP_001139754.1:n.1181-9T>C
NM_003136.3:c.1328-9T>C NP_003127.1:n.1328-9T>C
ENST00000216774.10:c.1328-9T>C ENSP00000216774.6:n.1328-9T>C
ENST00000546080.5:c.1181-9T>C ENSP00000440629.1:n.1181-9T>C
ENST00000546080.6:c.1151-9T>C ENSP00000440629.2:n.1151-9T>C
ENST00000555557.5:c.1136-9T>C ENSP00000451775.1:n.1136-9T>C
ENST00000555746.6:c.1157-9T>C ENSP00000451647.2:n.1157-9T>C
ENST00000556992.1:n.350T>C
ENST00000556994.5:c.1328-9T>C ENSP00000451818.1:n.1328-9T>C
ENST00000677621.1:n.5467-9T>C
ENST00000677647.1:c.1328-9T>C ENSP00000504673.1:n.1328-9T>C
ENST00000678274.1:c.*1058-9T>C ENSP00000504600.1:n.*1058-9T>C
ENST00000678477.1:c.*486-9T>C ENSP00000504671.1:n.*486-9T>C
ENST00000678519.1:c.*1066-9T>C ENSP00000504376.1:n.*1066-9T>C
ENST00000678627.1:c.1238-9T>C ENSP00000504550.1:n.1238-9T>C
ENST00000678836.1:c.*234-9T>C ENSP00000504412.1:n.*234-9T>C
ENST00000678963.1:c.1328-9T>C ENSP00000504518.1:n.1328-9T>C
XM_005268024.1:c.1157-9T>C XP_005268081.1:n.1157-9T>C
XM_005268024.3:c.1157-9T>C XP_005268081.1:n.1157-9T>C
XM_011537106.1:c.1328-9T>C XP_011535408.1:n.1328-9T>C
XM_011537107.1:c.1016-9T>C XP_011535409.1:n.1016-9T>C
XM_017021615.2:c.1016-9T>C XP_016877104.1:n.1016-9T>C