Canonical Allele Identifier: CA258809119
Community Standard Title: NM_003136.4(SRP54):c.171-93G>A
Gene: SRP54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.35000843G>A , CM000676.2:g.35000843G>A GRCh38
NC_000014.8:g.35470049G>A , CM000676.1:g.35470049G>A GRCh37
NC_000014.7:g.34539800G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003136.4:c.171-93G>A MANE Select NP_003127.1:n.171-93G>A
ENST00000216774.11:c.171-93G>A MANE Select ENSP00000216774.6:n.171-93G>A
NM_001146282.1:c.24-93G>A NP_001139754.1:n.24-93G>A
NM_001146282.2:c.24-93G>A NP_001139754.1:n.24-93G>A
NM_003136.3:c.171-93G>A NP_003127.1:n.171-93G>A
ENST00000216774.10:c.171-93G>A ENSP00000216774.6:n.171-93G>A
ENST00000546080.5:c.24-93G>A ENSP00000440629.1:n.24-93G>A
ENST00000546080.6:c.78+4056G>A ENSP00000440629.2:n.78+4056G>A
ENST00000553923.2:n.449-93G>A
ENST00000555535.1:n.403-93G>A
ENST00000555557.5:c.-22-93G>A ENSP00000451775.1:n.-22-93G>A
ENST00000555746.5:c.171-93G>A ENSP00000451647.1:n.171-93G>A
ENST00000555746.6:c.171-93G>A ENSP00000451647.2:n.171-93G>A
ENST00000556380.3:c.116+1248G>A ENSP00000451313.1:n.116+1248G>A
ENST00000556994.5:c.171-93G>A ENSP00000451818.1:n.171-93G>A
ENST00000630962.1:c.116+1248G>A ENSP00000486764.1:n.116+1248G>A
ENST00000677561.1:n.457-93G>A
ENST00000677621.1:n.449-93G>A
ENST00000677647.1:c.171-93G>A ENSP00000504673.1:n.171-93G>A
ENST00000678274.1:c.170+1194G>A ENSP00000504600.1:n.170+1194G>A
ENST00000678477.1:c.171-93G>A ENSP00000504671.1:n.171-93G>A
ENST00000678519.1:c.170+1194G>A ENSP00000504376.1:n.170+1194G>A
ENST00000678627.1:c.165+1199G>A ENSP00000504550.1:n.165+1199G>A
ENST00000678836.1:c.171-93G>A ENSP00000504412.1:n.171-93G>A
ENST00000678963.1:c.171-93G>A ENSP00000504518.1:n.171-93G>A
ENST00000679045.1:n.449-93G>A
XM_005268024.1:c.171-93G>A XP_005268081.1:n.171-93G>A
XM_005268024.3:c.171-93G>A XP_005268081.1:n.171-93G>A
XM_011537106.1:c.171-93G>A XP_011535408.1:n.171-93G>A
XM_011537107.1:c.-58+1194G>A XP_011535409.1:n.-58+1194G>A
XM_017021615.2:c.-58+1194G>A XP_016877104.1:n.-58+1194G>A