Canonical Allele Identifier: CA7153640
Community Standard Title: NM_003136.4(SRP54):c.636+9C>T
Gene: SRP54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.35011668C>T , CM000676.2:g.35011668C>T GRCh38
NC_000014.8:g.35480874C>T , CM000676.1:g.35480874C>T GRCh37
NC_000014.7:g.34550625C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003136.4:c.636+9C>T MANE Select NP_003127.1:n.636+9C>T
ENST00000216774.11:c.636+9C>T MANE Select ENSP00000216774.6:n.636+9C>T
NM_001146282.1:c.489+9C>T NP_001139754.1:n.489+9C>T
NM_001146282.2:c.489+9C>T NP_001139754.1:n.489+9C>T
NM_003136.3:c.636+9C>T NP_003127.1:n.636+9C>T
ENST00000216774.10:c.636+9C>T ENSP00000216774.6:n.636+9C>T
ENST00000546080.5:c.489+9C>T ENSP00000440629.1:n.489+9C>T
ENST00000546080.6:c.459+9C>T ENSP00000440629.2:n.459+9C>T
ENST00000553923.2:n.914+9C>T
ENST00000555557.5:c.444+9C>T ENSP00000451775.1:n.444+9C>T
ENST00000555746.6:c.636+9C>T ENSP00000451647.2:n.636+9C>T
ENST00000556380.3:c.*199+9C>T ENSP00000451313.1:n.*199+9C>T
ENST00000556994.5:c.636+9C>T ENSP00000451818.1:n.636+9C>T
ENST00000677561.1:n.922+9C>T
ENST00000677621.1:n.914+9C>T
ENST00000677647.1:c.636+9C>T ENSP00000504673.1:n.636+9C>T
ENST00000678274.1:c.*366+9C>T ENSP00000504600.1:n.*366+9C>T
ENST00000678477.1:c.636+9C>T ENSP00000504671.1:n.636+9C>T
ENST00000678519.1:c.*374+9C>T ENSP00000504376.1:n.*374+9C>T
ENST00000678627.1:c.546+9C>T ENSP00000504550.1:n.546+9C>T
ENST00000678836.1:c.636+9C>T ENSP00000504412.1:n.636+9C>T
ENST00000678963.1:c.636+9C>T ENSP00000504518.1:n.636+9C>T
ENST00000679045.1:n.923C>T
XM_005268024.1:c.636+9C>T XP_005268081.1:n.636+9C>T
XM_005268024.3:c.636+9C>T XP_005268081.1:n.636+9C>T
XM_011537106.1:c.636+9C>T XP_011535408.1:n.636+9C>T
XM_011537107.1:c.324+9C>T XP_011535409.1:n.324+9C>T
XM_017021615.2:c.324+9C>T XP_016877104.1:n.324+9C>T