Canonical Allele Identifier: CA15817408
Community Standard Title: NM_003136.4(SRP54):c.785+97A>G
Gene: SRP54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.35013591A>G , CM000676.2:g.35013591A>G GRCh38
NC_000014.8:g.35482797A>G , CM000676.1:g.35482797A>G GRCh37
NC_000014.7:g.34552548A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003136.4:c.785+97A>G MANE Select NP_003127.1:n.785+97A>G
ENST00000216774.11:c.785+97A>G MANE Select ENSP00000216774.6:n.785+97A>G
NM_001146282.1:c.638+97A>G NP_001139754.1:n.638+97A>G
NM_001146282.2:c.638+97A>G NP_001139754.1:n.638+97A>G
NM_003136.3:c.785+97A>G NP_003127.1:n.785+97A>G
ENST00000216774.10:c.785+97A>G ENSP00000216774.6:n.785+97A>G
ENST00000546080.5:c.638+97A>G ENSP00000440629.1:n.638+97A>G
ENST00000546080.6:c.608+97A>G ENSP00000440629.2:n.608+97A>G
ENST00000553923.2:n.1063+97A>G
ENST00000555557.5:c.593+97A>G ENSP00000451775.1:n.593+97A>G
ENST00000555746.6:c.785+97A>G ENSP00000451647.2:n.785+97A>G
ENST00000556994.5:c.785+97A>G ENSP00000451818.1:n.785+97A>G
ENST00000677561.1:n.1071+97A>G
ENST00000677621.1:n.1063+97A>G
ENST00000677647.1:c.785+97A>G ENSP00000504673.1:n.785+97A>G
ENST00000678274.1:c.*515+97A>G ENSP00000504600.1:n.*515+97A>G
ENST00000678477.1:c.637-211A>G ENSP00000504671.1:n.637-211A>G
ENST00000678519.1:c.*523+97A>G ENSP00000504376.1:n.*523+97A>G
ENST00000678627.1:c.695+97A>G ENSP00000504550.1:n.695+97A>G
ENST00000678836.1:c.785+97A>G ENSP00000504412.1:n.785+97A>G
ENST00000678963.1:c.785+97A>G ENSP00000504518.1:n.785+97A>G
XM_005268024.1:c.785+97A>G XP_005268081.1:n.785+97A>G
XM_005268024.3:c.785+97A>G XP_005268081.1:n.785+97A>G
XM_011537106.1:c.785+97A>G XP_011535408.1:n.785+97A>G
XM_011537107.1:c.473+97A>G XP_011535409.1:n.473+97A>G
XM_017021615.2:c.473+97A>G XP_016877104.1:n.473+97A>G